ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) (rs730880736)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158528 SCV000208463 likely pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The S782R (c.2346 C>A) variant has been reported in several unrelated individuals with HCM (Olivotto et al., 2008; Witjas-Paalberends et al., 2014; Murphy et al., 2016). The S782R variant has also been reported as c.2346 C>G in at least one patient with HCM (Zou et al., 2013). Additionally, a missense variant in the same residue (S782N) and in nearby residues (D778G, D778E, R783H) have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), supporting the functional importance of this residue and region of the protein. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S782R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic.

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