Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686812 | SCV000814347 | pathogenic | Werner syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp372Leufs*7) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with WRN-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000686812 | SCV004208826 | likely pathogenic | Werner syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480767 | SCV004224078 | likely pathogenic | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | PM2, PVS1 |