ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5348G>A (p.Arg1783His)

gnomAD frequency: 0.00003  dbSNP: rs745473249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244484 SCV000318268 uncertain significance Cardiovascular phenotype 2023-06-25 criteria provided, single submitter clinical testing The p.R1783H variant (also known as c.5348G>A), located in coding exon 34 of the MYH6 gene, results from a G to A substitution at nucleotide position 5348. The arginine at codon 1783 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534166 SCV000648272 uncertain significance Hypertrophic cardiomyopathy 14 2023-07-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 263508). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs745473249, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1783 of the MYH6 protein (p.Arg1783His).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000624009 SCV000740617 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-09-29 criteria provided, single submitter clinical testing

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