ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5524A>G (p.Met1842Val)

gnomAD frequency: 0.00003  dbSNP: rs754070802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001909136 SCV002174126 uncertain significance Hypertrophic cardiomyopathy 14 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002344000 SCV002653677 uncertain significance Cardiovascular phenotype 2023-11-29 criteria provided, single submitter clinical testing The p.M1842V variant (also known as c.5524A>G), located in coding exon 34 of the MYH6 gene, results from an A to G substitution at nucleotide position 5524. The methionine at codon 1842 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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