ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.431del (p.Ser144fs)

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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 RCV003536913 SCV004320319 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser144Ilefs*2) in the PEX13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX13 are known to be pathogenic (PMID: 10332040, 21031596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. For these reasons, this variant has been classified as Pathogenic.

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