LRRC37A

Chr 17

leucine rich repeat containing 37A

Also known as: LRRC37, LRRC37A1

NCBI Gene: 9884ENSG00000176681UniProt: A6NMS7

Based on the provided information, I cannot write a clinical gene summary for LRRC37A. The data only includes predicted subcellular localization (membrane), constraint metrics, and a predicted de novo mechanism, but lacks essential clinical information such as the protein's specific function, associated diseases or phenotypes, inheritance patterns, and pathogenic mechanisms. A meaningful clinical summary requires concrete evidence of gene-disease associations and phenotypic data that is not present in the provided information.

Summary from RefSeq, Mechanism
0
Active trials
6
Pubs (1 yr)
23
P/LP submissions
0%
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Clinical Summary— LRRC37A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 unique Pathogenic / Likely Pathogenic· 76 VUS of 155 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.04LOEUF
pLI 0.001
Z-score 1.46
OE 0.56 (0.32–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.21Z-score
OE missense 0.76 (0.66–0.87)
150 obs / 197.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.56 (0.32–1.04)
0≤0.351.4
Missense OE0.76 (0.66–0.87)
0≤0.61.4
Synonymous OE0.76
0≤1.21.6
LoF obs/exp: 7 / 12.6Missense obs/exp: 150 / 197.8Syn Z: 1.69
DN
0.79top 25%
GOF
0.6346th %ile
LOF
0.2484th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

155 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic1
VUS76
Likely Benign30
Benign17
21
Pathogenic
1
Likely Pathogenic
76
VUS
30
Likely Benign
17
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
21
0
21
Likely Pathogenic
0
0
1
0
1
VUS
0
75
1
0
76
Likely Benign
0
16
13
1
30
Benign
0
0
16
1
17
Total091522145

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

View in ClinVar →

Protein Context — Lollipop Plot

LRRC37A · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients