ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2095-21_2095-10del

dbSNP: rs772869377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725930 SCV000340601 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000725930 SCV000709889 likely pathogenic not provided 2020-05-18 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 15542397)
Invitae RCV000639508 SCV000761083 pathogenic Peroxisome biogenesis disorder 2024-01-10 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the PEX6 gene. It does not directly change the encoded amino acid sequence of the PEX6 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs772869377, gnomAD 0.02%). This variant has been observed in individuals with Zellweger syndrome (PMID: 15542397, 21520333; Invitae). ClinVar contains an entry for this variant (Variation ID: 286981). Studies have shown that this variant results in insertion of additional nucleotides and introduces a premature termination codon (PMID: 21520333; external communication). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000725930 SCV001714164 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475912 SCV004201526 likely pathogenic Heimler syndrome 2 2023-10-16 criteria provided, single submitter clinical testing

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