Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000660996 | SCV000783236 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV000475379 | SCV000549289 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-11-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys712Valfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507422 | SCV000600276 | pathogenic | not provided | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418398 | SCV002729112 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-03-22 | criteria provided, single submitter | clinical testing | The c.2130delTinsAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |