ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)

gnomAD frequency: 0.00003  dbSNP: rs369944396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879894 SCV002140367 uncertain significance Neu-Laxova syndrome 2 2022-09-07 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 156 of the PSAT1 protein (p.Thr156Met). This variant is present in population databases (rs369944396, gnomAD 0.08%). This missense change has been observed in individual(s) with phosphoserine aminotransferase deficiency (PMID: 34089226). ClinVar contains an entry for this variant (Variation ID: 976941). 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: "Probably Damaging"; 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 RCV001254449 SCV001430428 not provided not provided no assertion provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.