Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001053556 | SCV001217824 | pathogenic | Werner syndrome | 2020-04-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu308Thrfs*6) in the WRN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746445847, ExAC 0.002%). This variant has not been reported in the literature in individuals with WRN-related conditions. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic. |