ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3206T>A (p.Met1069Lys)

dbSNP: rs2138597373
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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 RCV001987597 SCV002224368 uncertain significance Hypertrophic cardiomyopathy 14 2021-04-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYH6-related conditions. This sequence change replaces methionine with lysine at codon 1069 of the MYH6 protein (p.Met1069Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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