ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)

gnomAD frequency: 0.00027  dbSNP: rs367577346
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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 RCV001879899 SCV002212871 uncertain significance Neu-Laxova syndrome 2 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 36 of the PSAT1 protein (p.Gly36Arg). This variant is present in population databases (rs367577346, gnomAD 0.008%). 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: 976976). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV001254488 SCV001430467 not provided not provided no assertion provided research

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