MEIG1
Chr 10meiosis/spermiogenesis associated 1
Also known as: SPATA39, bA2K17.3
The MEIG1 protein is essential for spermiogenesis, the process of sperm cell maturation during male fertility development. Mutations in this gene cause male infertility due to defects in sperm formation, following an autosomal recessive inheritance pattern. This gene shows low constraint against loss-of-function variants, consistent with its specialized role in male reproductive function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
58 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 | 0 | 0 | 25 | 0 | 25 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 18 | 7 | 0 | 25 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 18 | 36 | 0 | 54 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MEIG1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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