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
Labcorp Genetics (formerly Invitae), Labcorp RCV001384961 SCV001584668 pathogenic Zellweger spectrum disorders 2020-01-19 criteria provided, single submitter clinical testing Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cerebral abnormalities (PMID: 29261186). ClinVar contains an entry for this variant (Variation ID: 561079). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472182 SCV004203307 pathogenic Heimler syndrome 1 2023-08-04 criteria provided, single submitter clinical testing

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