ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1670+1G>A

dbSNP: rs1057517490
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411209 SCV000487648 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000409269 SCV000487649 likely pathogenic Peroxisome biogenesis disorder 1B 2016-06-23 criteria provided, single submitter clinical testing
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000411209 SCV000924450 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-01-01 criteria provided, single submitter research
Invitae RCV002523889 SCV002955184 likely pathogenic Zellweger spectrum disorders 2022-04-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 371753). Disruption of this splice site has been observed in individual(s) with clinical features of Zellweger syndrome (PMID: 31742715). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 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).

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