XIRP1
Chr 3xin actin binding repeat containing 1
Also known as: CMYA1, Xin
Xin actin-binding repeat-containing protein 1 protects actin filaments from depolymerization and is required for cardiac intercalated disk structure, heart rhythm maintenance, and skeletal muscle development. Mutations cause dilated cardiomyopathy with conduction defects and myopathy with autosomal recessive inheritance. This gene is not highly constrained against loss-of-function variation, affecting primarily cardiac and skeletal muscle systems.
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 gain-of-function.
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
200 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 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 165 | 0 | 0 | 166 |
Likely Benign | 0 | 6 | 0 | 1 | 7 |
Benign | 0 | 12 | 0 | 5 | 17 |
| Total | 1 | 183 | 3 | 6 | 193 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
XIRP1 · 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