Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471062 | SCV000541468 | likely pathogenic | Werner syndrome | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 16 of the WRN gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs772319506, gnomAD 0.002%). 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: 404044). Studies have shown that disruption of this splice site results in skipping of exon 16, but is expected to preserve the integrity of the reading-frame (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Fulgent Genetics, |
RCV000471062 | SCV002813966 | likely pathogenic | Werner syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000471062 | SCV004208813 | uncertain significance | Werner syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing |