ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2362+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1443107232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666129 SCV000790373 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001043607 SCV001207362 likely pathogenic Peroxisome biogenesis disorder 2023-05-22 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: 551145). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 12 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).
Baylor Genetics RCV003472076 SCV004201577 likely pathogenic Heimler syndrome 2 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276614 SCV001463066 likely pathogenic Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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