Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474572 | SCV000563783 | pathogenic | Werner syndrome | 2016-11-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 31-33 of the WRN gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). For these reasons, this variant has been classified as Pathogenic. |