ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.257G>A (p.Gly86Glu)

gnomAD frequency: 0.00001  dbSNP: rs752312334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261683 SCV002541831 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095890 SCV003475174 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 86 of the PEX13 protein (p.Gly86Glu). This variant is present in population databases (rs752312334, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. 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 disruptive. 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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