ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)

dbSNP: rs1057517499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410634 SCV000487613 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000411755 SCV000487614 likely pathogenic Peroxisome biogenesis disorder 1B 2016-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055950 SCV005716866 pathogenic Zellweger spectrum disorders 2024-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu721Cysfs*19) 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. ClinVar contains an entry for this variant (Variation ID: 371742). For these reasons, this variant has been classified as Pathogenic.

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