Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523830 | SCV000618958 | uncertain significance | not provided | 2017-07-03 | criteria provided, single submitter | clinical testing | The A15V variant in the PSAT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A15V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. We interpret A15V as a variant of uncertain significance. |
Dudley Research Group, |
RCV000523830 | SCV001430408 | not provided | not provided | no assertion provided | research | ||
OMIM | RCV003388587 | SCV004099500 | pathogenic | PSAT deficiency | 2020-05-27 | no assertion criteria provided | literature only |