ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) (rs1554127491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589755 SCV000696484 likely pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The c.1360C>T variant results in a premature termination codon, predicted to cause a truncated or absent PEX6 protein, which is a commonly known mechanism for disease. Mutation taster predicts damaging outcome for this variant. This variant is not found in 121000 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as likely pathogenic until more evidence becomes available.
Invitae RCV000589755 SCV001216667 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln454*) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 495795). Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). For these reasons, this variant has been classified as Pathogenic.

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