Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689198 | SCV000816838 | pathogenic | Werner syndrome | 2018-05-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln582*) in the WRN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757808169, ExAC 0.006%). This variant has not been reported in the literature in individuals with WRN-related disease. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000689198 | SCV004208876 | likely pathogenic | Werner syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing |