ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)

gnomAD frequency: 0.00001  dbSNP: rs748239213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074662 SCV003453217 uncertain significance Zellweger spectrum disorders 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 581 of the PEX1 protein (p.Arg581Trp). This variant is present in population databases (rs748239213, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. 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 C0"). This variant disrupts the p.Arg581 amino acid residue in PEX1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26387595). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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