ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2929G>A (p.Val977Met)

dbSNP: rs141079114
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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 RCV000539639 SCV000648241 uncertain significance Hypertrophic cardiomyopathy 14 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 977 of the MYH6 protein (p.Val977Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs141079114, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYH6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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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