Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382765 | SCV001581669 | pathogenic | Zellweger spectrum disorders | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys1150*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 31628608). ClinVar contains an entry for this variant (Variation ID: 1070573). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473940 | SCV004203370 | pathogenic | Heimler syndrome 1 | 2023-02-13 | criteria provided, single submitter | clinical testing |