ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)

dbSNP: rs1562846113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680063 SCV000807503 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant in a male fetus with microcephaly, lower limb contractures, polymicrogyria, caudal appendage, dysmorphic features, cryptorchidism
Invitae RCV001384961 SCV001584668 pathogenic Zellweger spectrum disorders 2020-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). This variant has been observed in individual(s) with cerebral abnormalities (PMID: 29261186). ClinVar contains an entry for this variant (Variation ID: 561079). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1069*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003472182 SCV004203307 pathogenic Heimler syndrome 1 2023-08-04 criteria provided, single submitter clinical testing

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