ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)

gnomAD frequency: 0.00003  dbSNP: rs368912844
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555711 SCV000648239 uncertain significance Hypertrophic cardiomyopathy 14 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 943 of the MYH6 protein (p.Arg943Cys). This variant is present in population databases (rs368912844, gnomAD 0.02%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 31513939). ClinVar contains an entry for this variant (Variation ID: 470519). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MYH6 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Human Genetics, University of Leuven RCV000768514 SCV000886827 uncertain significance Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001770460 SCV001993645 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in an individual with HCM (Robyns et al., 2020); 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: 31513939)
Ambry Genetics RCV002438451 SCV002746700 uncertain significance Cardiovascular phenotype 2023-10-25 criteria provided, single submitter clinical testing The p.R943C variant (also known as c.2827C>T), located in coding exon 20 of the MYH6 gene, results from a C to T substitution at nucleotide position 2827. The arginine at codon 943 is replaced by cysteine, an amino acid with highly dissimilar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002506356 SCV002814487 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-11 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001770460 SCV005199371 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing

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