Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665963 | SCV000790183 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2017-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001229220 | SCV001401658 | pathogenic | Zellweger spectrum disorders | 2019-08-31 | criteria provided, single submitter | clinical testing | Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individuals affected with Zellweger syndrome spectrum disorder (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 551013). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser190*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. |
Natera, |
RCV001229220 | SCV002079342 | pathogenic | Zellweger spectrum disorders | 2017-03-17 | no assertion criteria provided | clinical testing |