ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.44C>T (p.Ala15Val)

dbSNP: rs1554685353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Pacific Northwest Research Institute 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

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