ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) (rs762679408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674254 SCV000799559 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV000674254 SCV000931456 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762679408, ExAC 0.01%). This variant has been observed in an individual affected with a PEX1-related condition (PMID: 21031596). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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