ClinVar Miner

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

dbSNP: rs112298166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512914 SCV003439382 pathogenic Peroxisome biogenesis disorder 2023-11-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the PEX6 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with PEX6-related conditions (PMID: 10408779, 19877282). ClinVar contains an entry for this variant (Variation ID: 8123). Studies have shown that disruption of this splice site results in skipping of either exon 7 or both exons 6 and 7 and introduces a premature termination codon (PMID: 10408779). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473057 SCV004201586 pathogenic Heimler syndrome 2 2023-02-26 criteria provided, single submitter clinical testing
OMIM RCV000008594 SCV000028802 pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 1999-01-01 no assertion criteria provided literature only

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