Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701196 | SCV000829985 | pathogenic | Werner syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1321*) 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 0.01%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 20443122). ClinVar contains an entry for this variant (Variation ID: 578242). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000701196 | SCV004208829 | pathogenic | Werner syndrome | 2023-08-11 | criteria provided, single submitter | clinical testing |