ClinVar Miner

Submissions for variant NM_057174.2(PEX16):c.526C>T (p.Arg176Ter) (rs61752117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431832 SCV000517203 pathogenic not provided 2018-01-02 criteria provided, single submitter clinical testing The R176X variant in the PEX16 gene has been reported previously in association with autosomalrecessive Zellweger syndrome when present in the homozygous state or when in trans with anotherpathogenic variant (Honsho et al., 1998; Ohba et al., 2013). One study has shown that the R176Xvariant inactivated PEX16, which impaired peroxisome and peroxisomal membrane vesicle formation(Honsho et al., 1998). This variant is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. The R176X variant was not observed inapproximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common variant in these populations. We interpret R176X as a pathogenic variant.
OMIM RCV000006837 SCV000027033 pathogenic Peroxisome biogenesis disorder 8A 1998-12-01 no assertion criteria provided literature only

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