ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) (rs1057517481)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410455 SCV000487533 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000411996 SCV000487534 likely pathogenic Peroxisome biogenesis disorder 1B 2016-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004319 SCV001163200 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Invitae RCV001201668 SCV001372750 pathogenic Zellweger syndrome 2019-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg959*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state in an individual affected with clinical features of a Zellweger spectrum disorder (PMID: 27848944). ClinVar contains an entry for this variant (Variation ID: 371716). 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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