ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1688+1G>T

dbSNP: rs112298166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236261 SCV001408977 pathogenic Peroxisome biogenesis disorder 2019-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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). Experimental studies have shown that disruption of this splice affects mRNA splicing (PMID: 10408779). Disruption of this splice site has been observed in individual(s) with clinical features of Zellweger syndrome (PMID: 10408779). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the PEX6 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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