ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1628A>G (p.Lys543Arg) (rs367663906)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766770 SCV000617319 uncertain significance not provided 2019-01-04 criteria provided, single submitter clinical testing The K543R variant in the MYH6 gene has been reported previously in a family with atrial septal defects (Posch et al., 2011). The K543R variant is observed in 6/66734 (0.009%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The K543R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K543R as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215596 SCV000272018 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing The p.Lys543Arg variant in MYH6 has been reported in one individual with atriove ntricular septal defect (AVSD) and segregated with disease in one affected relat ive. Two additional relatives also carried this variant; however these individua ls were unavailable for clinical evaluation (Posch 2011). In addition, this vari ant has been identified in 6/66734 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs367663906). Computati onal prediction tools and conservation analysis do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Lys543Arg variant is uncertain.

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