ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2471del (p.Ala824fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823386 SCV000964245 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala824Glyfs*67) 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 not been reported in the literature in individuals with PEX1-related disease. 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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