G68S (p.Gly68Ser) variant of TNNC1 (P63316)
G68S (p.Gly68Ser) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- rs1267940563
- ClinGen CA353167879
- NCI-TCGA Cosmic COSV5176
- ClinVar RCV002011291
- Uncertain significance
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.38
- MetaLR 0.46
- MetaSVM -0.32
- PolyPhen-2 0.05
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)