ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)

dbSNP: rs1232449804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206563 SCV001377876 pathogenic Zellweger spectrum disorders 2023-03-09 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: 937534). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 28857144). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg827*) 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).
Natera, Inc. RCV001206563 SCV002076860 pathogenic Zellweger spectrum disorders 2021-06-25 no assertion criteria provided clinical testing

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