Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689923 | SCV000817593 | pathogenic | Werner syndrome | 2023-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu30*) 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 present in population databases (no rsID available, gnomAD 0.0009%). 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: 569323). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000689923 | SCV004208857 | likely pathogenic | Werner syndrome | 2023-05-23 | criteria provided, single submitter | clinical testing |