Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389950 | SCV001591509 | pathogenic | Werner syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1082Tyrfs*17) 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 (rs745905108, gnomAD 0.006%). 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: 1076156). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001389950 | SCV002794399 | likely pathogenic | Werner syndrome | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001389950 | SCV004208894 | likely pathogenic | Werner syndrome | 2022-09-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003963252 | SCV004780581 | likely pathogenic | WRN-related condition | 2024-02-29 | criteria provided, single submitter | clinical testing | The WRN c.3244delG variant is predicted to result in a frameshift and premature protein termination (p.Val1082Tyrfs*17). To our knowledge, this variant has not been reported in individuals with WRN-related disorders. This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in WRN are expected to be pathogenic. This variant is interpreted as likely pathogenic. |