ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1479+2del

dbSNP: rs1554127383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674127 SCV000799406 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003645866 SCV004411348 likely pathogenic Peroxisome biogenesis disorder 2023-09-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This sequence change affects a splice site in intron 6 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: 10408779, 21031596, 31831025). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 557926). 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.

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