ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1522dup (p.Glu508fs)

dbSNP: rs1057517463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412085 SCV000487434 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000409648 SCV000487435 likely pathogenic Peroxisome biogenesis disorder 1B 2015-11-30 criteria provided, single submitter clinical testing
Invitae RCV001865275 SCV002235601 pathogenic Zellweger spectrum disorders 2021-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371689). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu508Glyfs*6) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025).

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