Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844516 | SCV002103547 | likely pathogenic | Werner syndrome | 2022-02-23 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 32-35 in the WRN gene. A presumed nomenclature of c.(3687+1_3688-1)_(*660_?)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a stop loss in the WRN gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes. To our knowledge, no occurrence of c.(3687+1_3688-1)_(*660_?)del in individuals affected with Werner Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |