ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg)

gnomAD frequency: 0.00001  dbSNP: rs755510406
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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 RCV001246445 SCV001419799 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 353 of the PEX13 protein (p.Gln353Arg). This variant is present in population databases (rs755510406, gnomAD 0.002%). 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: 970801). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004740630 SCV005360561 uncertain significance PEX13-related disorder 2024-06-14 no assertion criteria provided clinical testing The PEX13 c.1058A>G variant is predicted to result in the amino acid substitution p.Gln353Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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