Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033068 | SCV001196375 | pathogenic | Werner syndrome | 2022-10-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 19-23 of the WRN gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). A similar copy number variant has been observed in individual(s) with Werner syndrome (PMID: 8968742). This variant is also known as c.2320–3056 deletion. For these reasons, this variant has been classified as Pathogenic. |