ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)

dbSNP: rs1459743428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382765 SCV001581669 pathogenic Zellweger spectrum disorders 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1150*) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 31628608). ClinVar contains an entry for this variant (Variation ID: 1070573). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473940 SCV004203370 pathogenic Heimler syndrome 1 2023-02-13 criteria provided, single submitter clinical testing

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