SGCD

Chr 5AR

sarcoglycan delta

NCBI Gene: 6444ENSG00000170624UniProt: Q92629

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 1LMIM #606685
Muscular dystrophy, limb-girdle, autosomal recessive 6MIM #601287
AR
857
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SGCD
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
857 total variants — no pathogenic classifications of 857 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.82LOEUF
pLI 0.002
Z-score 2.08
OE 0.44 (0.25–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.20Z-score
OE missense 0.96 (0.83–1.10)
144 obs / 150.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.25–0.82)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.83–1.10)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 7 / 15.9Missense obs/exp: 144 / 150.7Syn Z: -0.18

ClinVar Variant Classifications

857 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

SGCD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

SGCD-related dilated cardiomyopathy

limited
ADUndeterminedUncertain
Cardiac
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
SARCOGLYCAN, DELTA; SGCD
MIM #601411 · *

Cardiomyopathy, dilated, 1L

MIM #606685

Molecular basis of disorder known

Muscular dystrophy, limb-girdle, autosomal recessive 6

MIM #601287

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Sarcoglycanopathies: an update.
Vainzof M et al.·Neuromuscul Disord
2021Review
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.·Clin Genet
2019Cohort
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.·Brain
2020Cohort
SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
Brunetti B et al.·Genes (Basel)
2023
Sarcoglycanopathies: From clinical diagnosis to new promising therapies.
Borland H et al.·J Neuromuscul Dis
2025Review
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.·Orphanet J Rare Dis
2025Cohort
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Doody A et al.·BMC Neurol
2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.·Gene
2024Cohort
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A et al.·J Neurogenet
2017
Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.
Li J et al.·Oncotarget
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools