ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1727dup (p.Arg577fs)

dbSNP: rs1585238595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001030045 SCV001190567 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473610 SCV004203396 pathogenic Heimler syndrome 1 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594089 SCV004294508 pathogenic Zellweger spectrum disorders 2023-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg577Thrfs*15) 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: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 28432012). ClinVar contains an entry for this variant (Variation ID: 830063). For these reasons, this variant has been classified as Pathogenic.

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