Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227506 | SCV001399867 | pathogenic | Werner syndrome | 2019-10-23 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 4 of the WRN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20443122). This variant has been observed in individuals affected with Werner syndrome (PMID: 16786514, 20443122). This variant is present in population databases (rs780068269, ExAC 0.002%). |
Baylor Genetics | RCV001227506 | SCV004208865 | pathogenic | Werner syndrome | 2023-04-24 | criteria provided, single submitter | clinical testing |