ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.373C>T (p.His125Tyr)

gnomAD frequency: 0.00001  dbSNP: rs997904439
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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 RCV001879901 SCV002297274 uncertain significance Neu-Laxova syndrome 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 125 of the PSAT1 protein (p.His125Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). 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: 976990). 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 tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001254504 SCV001430483 not provided not provided no assertion provided research

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