ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)

gnomAD frequency: 0.00006  dbSNP: rs764335664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336867 SCV001530378 uncertain significance PSAT deficiency 2018-04-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001879886 SCV002271700 uncertain significance Neu-Laxova syndrome 2 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 265 of the PSAT1 protein (p.Ala265Thr). This variant is present in population databases (rs764335664, gnomAD 0.03%). 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: 976898). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change does not substantially affect PSAT1 function (PMID: 32077105). 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.
Dudley Research Group, Pacific Northwest Research Institute RCV001254395 SCV001430372 not provided not provided no assertion provided research

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