ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.358-1G>T

dbSNP: rs1057517479
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409170 SCV000487529 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-02-29 criteria provided, single submitter clinical testing
Counsyl RCV000410312 SCV000487530 likely pathogenic Peroxisome biogenesis disorder 1B 2016-02-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004523 SCV001163568 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Invitae RCV001861401 SCV002257765 likely pathogenic Zellweger spectrum disorders 2023-09-21 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 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: 21031596, 26387595, 31831025). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371714). 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.
Fulgent Genetics, Fulgent Genetics RCV002502434 SCV002788997 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2021-08-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409170 SCV002583274 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) no assertion criteria provided clinical testing

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