Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543106 | SCV000629647 | pathogenic | Werner syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp77Glyfs*6) 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: 458413). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000543106 | SCV004208873 | likely pathogenic | Werner syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing |