ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys)

gnomAD frequency: 0.00006  dbSNP: rs182373896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226928 SCV000287394 likely benign Hypertrophic cardiomyopathy 14 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002378987 SCV002690501 uncertain significance Cardiovascular phenotype 2020-01-15 criteria provided, single submitter clinical testing The p.R443C variant (also known as c.1327C>T), located in coding exon 11 of the MYH6 gene, results from a C to T substitution at nucleotide position 1327. The arginine at codon 443 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort and in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301; Haas J et al. Eur. Heart J., 2015 May;36:1123-35a). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003328572 SCV004035648 uncertain significance not provided 2023-09-11 criteria provided, single submitter clinical testing Reported in individuals with HCM, DCM and atrial fibrillation in published literature (Lopes et al., 2013; Lopes et al., 2015; Haas et al., 2015; Gregers et al., 2017), although no segregation or functional studies were reported; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25163546, 25351510, 28549997, 23396983)

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