ClinVar Miner

Submissions for variant NM_000692.5(ALDH1B1):c.764T>C (p.Val255Ala)

gnomAD frequency: 0.00001  dbSNP: rs201458895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

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