ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)

gnomAD frequency: 0.00009  dbSNP: rs115263053
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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 RCV001349898 SCV001544264 uncertain significance Neu-Laxova syndrome 2 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 171 of the PSAT1 protein (p.Ala171Pro). This variant is present in population databases (rs115263053, gnomAD 0.05%). 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: 976947). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSAT1 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 RCV001254456 SCV001430435 not provided not provided no assertion provided research

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