ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310265 SCV002602249 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 2021-12-26 criteria provided, single submitter clinical testing NM_000466.2(PEX1):c.3258_3261delTCTT(F1086Lfs*18) is expected to be pathogenic in the context of peroxisome biogenesis disorder type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV003475337 SCV004203273 pathogenic Heimler syndrome 1 2023-10-07 criteria provided, single submitter clinical testing
Invitae RCV003759100 SCV004481698 pathogenic Zellweger spectrum disorders 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1086Leufs*18) 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).

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