ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2719-2A>G

dbSNP: rs1554369234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668286 SCV000792860 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV002530739 SCV003328784 likely pathogenic Zellweger spectrum disorders 2022-03-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 552936). 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 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).
Baylor Genetics RCV003472097 SCV004203343 likely pathogenic Heimler syndrome 1 2023-05-22 criteria provided, single submitter clinical testing

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