ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile)

dbSNP: rs1179781327
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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 RCV002570568 SCV002953737 uncertain significance Neu-Laxova syndrome 2 2022-03-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 364 of the PSAT1 protein (p.Phe364Ile). ClinVar contains an entry for this variant (Variation ID: 977069). 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). 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 C15").
Dudley Research Group, Pacific Northwest Research Institute RCV001254589 SCV001430569 not provided not provided no assertion provided research

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