ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2785G>C (p.Glu929Gln)

gnomAD frequency: 0.00001  dbSNP: rs1555333987
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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 RCV000539980 SCV000648238 uncertain significance Hypertrophic cardiomyopathy 14 2017-04-30 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamic acid with glutamine at codon 929 of the MYH6 protein (p.Glu929Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH6-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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