ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.955dup (p.Arg319fs)

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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 RCV001253801 SCV001427206 uncertain significance Phosphoserine aminotransferase deficiency; Neu-laxova syndrome 2 2019-11-21 no assertion criteria provided clinical testing The p.Arg319Lysfs*4 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/). This variant results in a 1 base pair insertion, which causes a shift in the protein reading frame, leading to a premature termination codon 4 amino acids downstream. This premature termination codon is within the last 50 base pairs of the of penultimate exon of PSAT1 and is not predicted to undergo nonsense-mediated decay. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Arg319Lysfs*4 variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PM4]

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