ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)

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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 RCV002877141 SCV003238219 pathogenic Peroxisome biogenesis disorder 2B 2022-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln26*) in the PEX5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX5 are known to be pathogenic (PMID: 18712838, 21031596).

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