ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)

gnomAD frequency: 0.00001  dbSNP: rs1428782325
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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 RCV001237439 SCV001410199 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp313*) in the PEX13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the PEX13 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 35854306). ClinVar contains an entry for this variant (Variation ID: 963417). This variant disrupts a region of the PEX13 protein in which other variant(s) (p.Trp313Gly) have been determined to be pathogenic (PMID: 17041890, 23716570). 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.

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