Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001563583 | SCV001786556 | likely pathogenic | Werner syndrome | 2021-03-05 | criteria provided, single submitter | clinical testing | The WRN c.2031_2032delGC (p.His678Ter) variant is a stop-gained variant that is predicted to result in a premature termination. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the available information and application of the ACMG criteria, the p.His678Ter variant is classified as likely pathogenic for Werner syndrome. |