Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673928 | SCV000799185 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2018-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001214601 | SCV001386288 | pathogenic | Zellweger syndrome | 2019-06-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala921Leufs*40) 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 an individual affected with Zellweger syndrome spectrum disorder (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 557750). 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. |