ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2384G>A (p.Arg795Gln) (rs267606907)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000015210 SCV000960130 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 795 of the MYH6 protein (p.Arg795Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs267606907, ExAC 0.02%). This variant has been observed in an individual with late-onset hypertrophic cardiomyopathy (PMID: 11815426). ClinVar contains an entry for this variant (Variation ID: 14147). 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: "Deleterious"; 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.
OMIM RCV000015210 SCV000035467 pathogenic Familial hypertrophic cardiomyopathy 14 2002-01-29 no assertion criteria provided literature only

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