ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1921A>C (p.Lys641Gln)

dbSNP: rs768209175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887611 SCV002109359 uncertain significance Hypertrophic cardiomyopathy 14 2022-01-21 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. This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 641 of the MYH6 protein (p.Lys641Gln). This variant is present in population databases (rs768209175, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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