Total submissions: 3
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 |