ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys)

gnomAD frequency: 0.00001  dbSNP: rs553281141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879904 SCV002151561 uncertain significance Neu-Laxova syndrome 2 2023-08-04 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 affects PSAT1 function (PMID: 32077105). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PSAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 977008). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs553281141, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 288 of the PSAT1 protein (p.Phe288Cys).
Dudley Research Group, Pacific Northwest Research Institute RCV001254526 SCV001430505 not provided not provided no assertion provided research

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