Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521940 | SCV000619409 | likely pathogenic | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | The G185A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G185A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G185A 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Another missense variant in the same residue (G185S) has been reported in the Human Gene Mutation Database in association with very long-chain acyl-CoA dehydrogenase deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |