Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068691 | SCV001233817 | pathogenic | Werner syndrome | 2023-09-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 862046). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 16673358). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr57*) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). |
Ce |
RCV001091592 | SCV001247724 | pathogenic | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing |