ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.646C>G (p.Leu216Val) (rs772488436)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492868 SCV000582658 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing The L216V variant of uncertain significance in the MYH7 gene has been reported in at least one individual from a cohort of patients with HCM (Waldmuller et al., 2008); although further clinical details and segregation studies were not described. The L216V variant is also not observed in large population cohorts (Lek et al., 2016). However, the L216V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000492868 SCV000987569 likely pathogenic not provided criteria provided, single submitter clinical testing

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