ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)

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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 RCV003594538 SCV004333923 pathogenic Zellweger spectrum disorders 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln930*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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