ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.855del (p.Val286fs)

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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 RCV003535492 SCV004304828 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-07-19 criteria provided, single submitter clinical testing This variant disrupts a region of the PEX13 protein in which other variant(s) (p.Arg294Trp) have been determined to be pathogenic (PMID: 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. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This sequence change creates a premature translational stop signal (p.Val286Tyrfs*14) in the PEX13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 118 amino acid(s) of the PEX13 protein. This variant is not present in population databases (gnomAD no frequency).

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