ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2719-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1791673946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002030082 SCV002109709 likely pathogenic Zellweger spectrum disorders 2021-08-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the PEX1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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