ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1130+1G>A

dbSNP: rs267608213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239904 SCV001412807 likely pathogenic Peroxisome biogenesis disorder 2022-02-05 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with early onset and severe retinal dystrophy associated with sensorineural hearing loss and/or Zellweger syndrome (PMID: 8940266, 31884617). 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: 8122). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the PEX6 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 PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596).
OMIM RCV000008592 SCV000028800 pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 1996-12-01 no assertion criteria provided literature only

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