STBD1

Chr 4

starch binding domain 1

Also known as: GENEX3414, GENX-3414

NCBI Gene: 8987 ENSG00000118804 UniProt: O95210 OMIM: 607406

The STBD1 protein acts as a cargo receptor that delivers glycogen to lysosomes through an autophagic pathway called glycophagy. Biallelic mutations cause polyglucosan body myopathy 1, an autosomal recessive disorder characterized by adult-onset progressive muscle weakness and cardiomyopathy. The gene is not constrained against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, UniProt

Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.85

Clinical Summary— STBD1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

57 VUS of 58 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.85LOEUF

pLI 0.000

Z-score -0.96

OE 1.31 (0.87–1.85)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.23Z-score

OE missense 0.95 (0.84–1.08)

182 obs / 190.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.31 (0.87–1.85)

0≤0.351.4

Missense OE?0.95 (0.84–1.08)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 15 / 11.5Missense obs/exp: 182 / 190.9Syn Z: -0.30

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

VUS57

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	57	57
Likely Benign	1	1
Benign	0	0
Total	58	58

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

23 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap STBD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →