Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001970151 | SCV002229372 | pathogenic | Werner syndrome | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys1243Argfs*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 not present in population databases (gnomAD no frequency). 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: 1455906). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001970151 | SCV004208853 | likely pathogenic | Werner syndrome | 2023-06-11 | criteria provided, single submitter | clinical testing |