ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr)

dbSNP: rs776667030
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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 RCV002570557 SCV002993053 uncertain significance Neu-Laxova syndrome 2 2022-07-19 criteria provided, single submitter clinical testing 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. 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 have shown that this missense change does not substantially affect PSAT1 function (PMID: 32077105). ClinVar contains an entry for this variant (Variation ID: 976877). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs776667030, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 98 of the PSAT1 protein (p.Cys98Tyr).
Dudley Research Group, Pacific Northwest Research Institute RCV001254371 SCV001430348 not provided not provided no assertion provided research

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