ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2141G>T (p.Arg714Leu) (rs776602843)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444907 SCV000535083 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The R714L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed in large population cohorts (Lek et al., 2016). The R714L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, this variant has not been observed in a significant number of affected individuals, and it lacks both large segregation studies and functional evidence which would further clarify its pathogenicity.

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