ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln)

gnomAD frequency: 0.00001  dbSNP: rs753331548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869042 SCV002161941 uncertain significance Neu-Laxova syndrome 2 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 110 of the PSAT1 protein (p.Lys110Gln). This variant is present in population databases (rs753331548, gnomAD 0.02%). 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: 623438). 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 are conflicting or provide insufficient evidence to determine the effect of this variant on 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.
Institute of Human Genetics, Polish Academy of Sciences RCV000785711 SCV000891463 uncertain significance High myopia 2018-12-17 no assertion criteria provided research
Dudley Research Group, Pacific Northwest Research Institute RCV001254445 SCV001430424 not provided not provided no assertion provided research

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