ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1842del (p.Glu615fs) (rs267608176)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410765 SCV000487496 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-01-26 criteria provided, single submitter clinical testing
Counsyl RCV000412291 SCV000487497 likely pathogenic Peroxisome biogenesis disorder 1B 2016-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194280 SCV001363679 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-10-25 criteria provided, single submitter clinical testing Variant summary: PEX1 c.1842delA (p.Glu615LysfsX30) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.6e-05 in 251282 control chromosomes. c.1842delA has been reported in the literature in individuals affected with biochemically confirmed diagnosis of Zellweger Syndrome (Yik_2009, Ebberink_2010). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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