Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411495 | SCV000487737 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-10-07 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409071 | SCV000487738 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001210281 | SCV001381760 | pathogenic | Zellweger syndrome | 2019-09-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile370Leufs*17) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs755998864, ExAC 0.5%). This variant has not been reported in the literature in individuals with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371779). 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. |