ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) (rs794729652)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185568 SCV000238462 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-06-04 no assertion criteria provided research The heterozygous variant (c.3379dup; p.Arg1127Profs*9) is a duplication of a single nucleotide resulting in a shift in the reading frame, creating a premature stop codon. This is a novel variant that has not been reported previously but is predicted to be pathogenic (Rosewich et al. 2005 PMID: 16141001).
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185569 SCV000238463 pathogenic Peroxisome biogenesis disorder 1B 2015-06-04 no assertion criteria provided research The heterozygous variant (c.3379dup; p.Arg1127Profs*9) is a duplication of a single nucleotide resulting in a shift in the reading frame, creating a premature stop codon. This is a novel variant that has not been reported previously but is predicted to be pathogenic (Rosewich et al. 2005 PMID: 16141001).
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477843 SCV000536795 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 2015-12-30 no assertion criteria provided research

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