ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val)

dbSNP: rs760503466
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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 RCV001879908 SCV002274025 uncertain significance Neu-Laxova syndrome 2 2022-02-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 977017). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs760503466, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 351 of the PSAT1 protein (p.Ile351Val). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Dudley Research Group, Pacific Northwest Research Institute RCV001254536 SCV001430515 not provided not provided no assertion provided research

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