ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) (rs398123408)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078917 SCV000110777 pathogenic not provided 2013-05-23 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780586 SCV000917982 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-08-24 criteria provided, single submitter clinical testing Variant summary: PEX1 c.1952_1960dupCAGTGTGGA (p.Trp653_Met654insThrValTrp) results in an in-frame insertion located within the ATPase, AAA-type, core domain that is predicted to insert 3 amino acids into the encoded protein. The variant allele was found at a frequency of 1.2e-05 in 246046 control chromosomes (gnomAD). The variant, c.1952_1960dupCAGTGTGGA has been reported in the literature in individuals affected with Zellweger Syndrome (Preuss_2002, Reuber_1997, Thoms_2011, Yik_2009). 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV000850163 SCV000992356 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-04-28 criteria provided, single submitter clinical testing

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