ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser)

dbSNP: rs199619145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568739 SCV002983741 uncertain significance Neu-Laxova syndrome 2 2022-08-09 criteria provided, single submitter clinical testing 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PSAT1 function (PMID: 32077105). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 976889). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs199619145, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 153 of the PSAT1 protein (p.Ala153Ser).
Dudley Research Group, Pacific Northwest Research Institute RCV001254386 SCV001430363 not provided not provided no assertion provided research

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