ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America 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.

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