Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001012987 | SCV001173517 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-10 | criteria provided, single submitter | clinical testing | The c.1745delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1745, causing a translational frameshift with a predicted alternate stop codon (p.T582Rfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV004569913 | SCV005058293 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005093092 | SCV005741287 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr582Argfs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 819989). For these reasons, this variant has been classified as Pathogenic. |