ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.881G>A (p.Arg294Gln)

gnomAD frequency: 0.00002  dbSNP: rs377426614
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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 RCV001057758 SCV001222268 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2023-10-28 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 294 of the PEX13 protein (p.Arg294Gln). This variant is present in population databases (rs377426614, gnomAD 0.02%). 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: 853028). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX13 protein function with a negative predictive value of 80%. This variant disrupts the p.Arg294 amino acid residue in PEX13. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 35854306). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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