M6T (p.Met6Thr) variant of MYH7 (Myosin-7)
M6T (p.Met6Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy 1S. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- rs779276614
- ClinGen CA029407
- ClinVar RCV001246915
- ClinVar RCV001788432
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy 1S
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.76
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy; Dilated cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)