ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys)

dbSNP: rs370010815
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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 RCV001949909 SCV002199081 uncertain significance Peroxisome biogenesis disorder 2B 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 283 of the PEX5 protein (p.Ser283Cys). This variant is present in population databases (rs370010815, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX5-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: "Benign"; Align-GVGD: "Class C0"). 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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