ClinVar Miner

Submissions for variant NM_017929.6(PEX26):c.185G>A (p.Trp62Ter) (rs1556586479)

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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 RCV000589459 SCV000699449 likely pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2017-01-06 criteria provided, single submitter clinical testing Variant summary: The PEX26 c.185G>A (p.Trp62X) variant results in a premature termination codon, predicted to cause a truncated or absent PEX26 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this variant. This variant is absent in 41808 control chromosomes while it was reported in one Zellweger syndrome patient in homozygosity indicating causality. Taken together, this variant is classified as likely pathogenic.

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