ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)

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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 RCV003538040 SCV004325338 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-09-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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.Leu199*) 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).

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