ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2828G>A (p.Arg943His)

gnomAD frequency: 0.00001  dbSNP: rs766640013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770449 SCV000901892 uncertain significance Cardiomyopathy 2017-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204142 SCV001375335 uncertain significance Hypertrophic cardiomyopathy 14 2024-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 943 of the MYH6 protein (p.Arg943His). This variant is present in population databases (rs766640013, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 626806). 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.
Ambry Genetics RCV002440597 SCV002746706 uncertain significance Cardiovascular phenotype 2023-05-31 criteria provided, single submitter clinical testing The p.R943H variant (also known as c.2828G>A), located in coding exon 20 of the MYH6 gene, results from a G to A substitution at nucleotide position 2828. The arginine at codon 943 is replaced by histidine, an amino acid with highly similar 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.

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