MTMR10
Chr 15ARmyotubularin related protein 10
The protein functions as a phosphatidylinositol-3-phosphate phosphatase involved in phosphatidylinositol dephosphorylation in the cytoplasm. Mutations cause short-rib thoracic dysplasia 1 with or without polydactyly, a skeletal ciliopathy affecting the thorax and potentially the digits. Inheritance is autosomal recessive.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
500 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 | 5 | 0 | 102 | 0 | 107 |
Likely Pathogenic | 15 | 1 | 5 | 0 | 21 |
VUS | 1 | 198 | 38 | 1 | 238 |
Likely Benign | 0 | 8 | 22 | 33 | 63 |
Benign | 1 | 1 | 31 | 3 | 36 |
Conflicting | — | 4 | |||
| Total | 22 | 208 | 198 | 37 | 469 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTMR10 · 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