ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg)

gnomAD frequency: 0.00001  dbSNP: rs1337201612
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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 RCV001306407 SCV001495779 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-03-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1008985). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 395 of the PEX13 protein (p.Gly395Arg).

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