ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)

gnomAD frequency: 0.00001  dbSNP: rs768121356
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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 RCV002570558 SCV003503710 uncertain significance Neu-Laxova syndrome 2 2022-02-04 criteria provided, single submitter clinical testing 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). 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"). ClinVar contains an entry for this variant (Variation ID: 976922). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs768121356, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 51 of the PSAT1 protein (p.Lys51Asn).
Dudley Research Group, Pacific Northwest Research Institute RCV001254423 SCV001430401 not provided not provided no assertion provided research

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