ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.725C>T (p.Thr242Met)

gnomAD frequency: 0.00004  dbSNP: rs149101687
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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 RCV001879911 SCV002298264 uncertain significance Neu-Laxova syndrome 2 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 242 of the PSAT1 protein (p.Thr242Met). This variant is present in population databases (rs149101687, gnomAD 0.01%). 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: 977051). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PSAT1 protein function with a positive predictive value of 80%. 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 RCV001254571 SCV001430550 not provided not provided no assertion provided research

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