Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687948 | SCV000815543 | pathogenic | Werner syndrome | 2023-09-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1034*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 567775). For these reasons, this variant has been classified as Pathogenic. |