Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196411 | SCV000251144 | likely pathogenic | not provided | 2014-03-28 | criteria provided, single submitter | clinical testing | p.Val255Ala (GTT>GCT): c.764 T>C in exon 2 of the ALDH1B1 gene (NM_000692.4). The V255A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V255A 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 highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s). |