Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001526174 | SCV001736471 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-08-26 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with isoleucine at codon 507 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant alters a conserved arginine residue within the first BRCA1 nuclear localization signal, but a functional study has shown that this variant does not affect nuclear localization of BRCA1 protein (PMID: 14729053). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
University of Washington Department of Laboratory Medicine, |
RCV001526174 | SCV003851241 | 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). |
Breast Cancer Information Core |
RCV000111640 | SCV000144123 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-04-05 | no assertion criteria provided | clinical testing |