ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2852dup (p.His951fs)

dbSNP: rs767877383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674644 SCV000800017 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003758907 SCV004548028 pathogenic Zellweger spectrum disorders 2023-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558383). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs767877383, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.His951Glnfs*2) 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).
Fulgent Genetics, Fulgent Genetics RCV005034279 SCV005669704 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2024-05-01 criteria provided, single submitter clinical testing

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