Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000509848 | SCV000608107 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-20 | criteria provided, single submitter | clinical testing | The p.L973V variant (also known as c.2917C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 2917. The leucine at codon 973 is replaced by valine, an amino acid with highly similar properties. This alteration was reported in a cohort of 55630 patients who underwent BRCA1 gene sequencing at a commercial laboratory and was classified as a variant of unknown significance (Judkins T et al. Cancer Res, 2005 Nov;65:10096-103). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001302190 | SCV001491388 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-07-07 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000509848 | SCV003849250 | 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). |
Myriad Genetics, |
RCV000083191 | SCV004043178 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. |
Sharing Clinical Reports Project |
RCV000083191 | SCV000115265 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-04-09 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083191 | SCV000144580 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-12-23 | no assertion criteria provided | clinical testing |