ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.273+1G>A

dbSNP: rs1554376597
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674474 SCV000799816 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377626 SCV001575008 likely pathogenic Zellweger spectrum disorders 2022-03-19 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: 558237). Disruption of this splice site has been observed in individual(s) with Zellweger syndrome spectrum disorder (PMID: 21031596). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 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).
Fulgent Genetics, Fulgent Genetics RCV002499189 SCV002806949 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2022-05-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472170 SCV004203375 pathogenic Heimler syndrome 1 2023-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001377626 SCV002079352 likely pathogenic Zellweger spectrum disorders 2020-09-21 no assertion criteria provided clinical testing

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