ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) (rs61750418)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169227 SCV000220493 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-07-10 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000657614 SCV000226030 pathogenic not provided 2014-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657614 SCV000779356 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing The R795X variant in the PEX1 gene has been reported previously, along with a second variant in PEX1, in an individual with Zellweger syndrome (Collins and Gould, 1999). R795X has also been reported in the heterozygous state in an additional unrelated individual with a Zellweger spectrum disorder, however, there was no mention of a second variant being identified (Ebberink et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R795X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R795X as a likely pathogenic variant.
Baylor Genetics RCV001004323 SCV001163204 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Invitae RCV001220088 SCV001392061 pathogenic Zellweger syndrome 2020-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg795*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61750418, ExAC 0.006%). This variant has been observed in individuals affected with Zellweger syndrome (PMID: 10447258, 21846392). ClinVar contains an entry for this variant (Variation ID: 188873). Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.

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