ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) (rs730880808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484676 SCV000565732 likely pathogenic not provided 2017-03-23 criteria provided, single submitter clinical testing The L1591P variant in the MYH7 gene has been reported previously in a family with Laing distal myopathy (Tasca et al., 2012). The L1591P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1591P 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. The L1591P variant is a strong candidate for a pathogenic variant.
GeneReviews RCV000192208 SCV000223118 pathogenic Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only

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