Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |