ClinVar Miner

Submissions for variant NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter) (rs61752137)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483391 SCV000566968 pathogenic not provided 2015-07-01 criteria provided, single submitter clinical testing The R427X variant in the PEX5 gene has been reported previously in association with peroxisomebiogenesis disorder by characterizing cell lines from affected patients at a biochemical and genetic level.Two different functional studies performed on fibroblast cell lines derived from patients with a PEX5-related disorder demonstrated that R427X caused a defect in the import of either peroxisomal targetingsequence type 1 (PTS1) or type 2 (PTS2) into peroxisomes (Ebberink et al., 2009; Dodt et al., 1995). Thisvariant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R427X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R427X as a pathogenic variant.
OMIM RCV000009715 SCV000029933 pathogenic Peroxisome biogenesis disorder 2A (Zellweger) 1995-02-01 no assertion criteria provided literature only

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