ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1103A>G (p.His368Arg)

gnomAD frequency: 0.00001  dbSNP: rs781632079
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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 RCV001879887 SCV002192612 uncertain significance Neu-Laxova syndrome 2 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 368 of the PSAT1 protein (p.His368Arg). This variant is present in population databases (rs781632079, gnomAD 0.004%). 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: 976914). 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: "Benign"; 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 RCV001254413 SCV001430390 not provided not provided no assertion provided research

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