ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Program, Stanford Medicine RCV001253800 SCV001427098 uncertain significance Phosphoserine aminotransferase deficiency; Neu-laxova syndrome 2 2019-11-21 no assertion criteria provided clinical testing The p.Trp140Cys variant in the PSAT1 gene has not been previously reported in association with disease and was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Computational tools predict that this variant is deleterious; however, the accuracy of in silico algorithms is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Trp140Cys variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP3]

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