ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg)

gnomAD frequency: 0.00011  dbSNP: rs756701004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778892 SCV000915295 uncertain significance PSAT deficiency 2017-04-28 criteria provided, single submitter clinical testing The PSAT1 c.1111T>C (p.Ter371ArgextTer11) variant is a stop-lost variant that is predicted to result in an elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-lost variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for phosphoserine aminotransferase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneDx RCV001772039 SCV001992899 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing Normal stop codon changed to an Arginine codon, leading to the addition of 11 amino acids at the C-terminus; extended protein is not a known mechanism of disease for this gene; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001856165 SCV002298181 uncertain significance Neu-Laxova syndrome 2 2022-08-21 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the PSAT1 mRNA. It is expected to extend the length of the PSAT1 protein by 11 additional amino acid residues. This variant is present in population databases (rs756701004, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 632050). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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