ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1108dup (p.Ile370fs) (rs61750406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798684 SCV000938310 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile370Asnfs*2) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61750406, ExAC 0.01%). This variant has been observed in an individual affected with Zellweger syndrome (PMID: 16088892). This variant is also known as c.1108_1109insA in the literature. 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.
Johns Hopkins Genomics,Johns Hopkins University RCV000798684 SCV000992355 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-04-28 criteria provided, single submitter clinical testing

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