ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.649C>G (p.Leu217Val)

gnomAD frequency: 0.00001  dbSNP: rs771502157
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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 RCV002570561 SCV003351165 uncertain significance Neu-Laxova syndrome 2 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 217 of the PSAT1 protein (p.Leu217Val). This variant is present in population databases (rs771502157, gnomAD 0.007%). 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: 976949). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect 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 RCV001254458 SCV001430437 not provided not provided no assertion provided research

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