Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204056 | SCV001375244 | pathogenic | Werner syndrome | 2023-09-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile300Asnfs*5) 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 (rs757968518, gnomAD 0.02%). 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: 935462). For these reasons, this variant has been classified as Pathogenic. |