A31T (p.Ala31Thr) variant of TNNC1 (P63316)
A31T (p.Ala31Thr) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs397514616
- ClinGen CA297310
- ClinVar RCV000159193
- ClinVar RCV001306036
- Uncertain significance
- not provided; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.94
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyop)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)