ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5594G>A (p.Arg1865Gln) (rs138720701)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623148 SCV000740613 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-08-30 criteria provided, single submitter clinical testing
Invitae RCV000688532 SCV000816148 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-03-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1865 of the MYH6 protein (p.Arg1865Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs138720701, ExAC 0.01%). This variant has been reported in a family affected with congenital heart defects (PMID: 20656787). 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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