ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4727G>A (p.Arg1576Gln) (rs771898553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624637 SCV000742602 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000481711 SCV000573165 uncertain significance not provided 2017-02-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The R1576Q variant has been reported in one patient with HCM (Xu et al., 2015); however, no familial segregation information or functional studies were provided. Nevertheless, this variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1576Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Finally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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