ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1325G>A (p.Arg442His) (rs730880870)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158796 SCV000208731 pathogenic not provided 2013-10-18 criteria provided, single submitter clinical testing The Arg442His mutation in the MYH7 gene has been reported previously in association with dilated cardiomyopathy (DCM) (Kamisago M et al., 2006; Larsen M et al., 2012), and has been observed in other unrelated individuals tested for DCM at GeneDx. Although Arg442His results in a conservative amino acid substitution, this substitution occurs at a position that is highly conserved across species. Mutations in this residue (Arg442Cys) and nearby residues (Val440Met, Thr441Met, Ile443Thr, Asn444Ser) have been reported in association with cardiomyopathy, further supporting the functional importance of this residue and this region of the protein. Furthermore, the Arg442His mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in HCM panel(s).
Blueprint Genetics RCV000158796 SCV000927513 likely pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing

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