Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489562 | SCV000577803 | likely pathogenic | not provided | 2015-05-05 | criteria provided, single submitter | clinical testing | The A101V 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 is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (G92C, I105N, R107C/G/H, G108D, S111F) have been reported in the Human Gene Mutation Database in association with SCAD (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, A101V is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |