LRRC37A2
Chr 17leucine rich repeat containing 37 member A2
Also known as: LRRC37
The protein is predicted to have ATP binding and hydrolysis activity and to be involved in SNARE complex disassembly and protein transport in the cytoplasm and membranes. This gene shows extremely low constraint against loss-of-function variants (pLI near 0, LOEUF ~1), suggesting it may tolerate such variants without causing disease. No established disease associations have been reported for mutations in this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 2 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 64 | 1 | 0 | 65 |
Likely Benign | 0 | 8 | 7 | 10 | 25 |
Benign | 0 | 0 | 4 | 0 | 4 |
Conflicting | — | 2 | |||
| Total | 1 | 72 | 15 | 10 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRRC37A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools