Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003464871 | SCV004208852 | likely pathogenic | Werner syndrome | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003464871 | SCV004337879 | pathogenic | Werner syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1325Serfs*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 (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. For these reasons, this variant has been classified as Pathogenic. |