ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.871del (p.Ile291fs)

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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 RCV003653777 SCV004460023 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX13 protein in which other variant(s) (p.Arg294Trp) have been determined to be pathogenic (PMID: 33190326, 35854306). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 creates a premature translational stop signal (p.Ile291Phefs*9) in the PEX13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 113 amino acid(s) of the PEX13 protein.

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