ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.566G>A (p.Arg189Gln)

dbSNP: rs777179456
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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 RCV001298135 SCV001487179 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 189 of the PEX13 protein (p.Arg189Gln). This variant is present in population databases (rs777179456, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001791). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.
Revvity Omics, Revvity RCV003490172 SCV004235754 uncertain significance not provided 2023-10-30 criteria provided, single submitter clinical testing

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