Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV003158004 | SCV003848033 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Invitae | RCV003645333 | SCV004537388 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 642621). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant, c.1839_1841delinsAGT, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the BRCA1 protein (p.Lys614Val). |