ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg)

gnomAD frequency: 0.00001  dbSNP: rs573647836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879905 SCV002194523 uncertain significance Neu-Laxova syndrome 2 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 291 of the PSAT1 protein (p.Cys291Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: 977009). 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 C0"). Experimental studies have shown that this missense change affects 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 RCV001254528 SCV001430507 not provided not provided no assertion provided research

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