Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000077580 | SCV000300146 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
| Labcorp Genetics |
RCV001386983 | SCV001587447 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-04-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1540*) 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 premature translational stop signal has been observed in individual(s) with personal and family history of breast and/or ovarian cancer (PMID: 29470806). ClinVar contains an entry for this variant (Variation ID: 55240). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002326775 | SCV002633387 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-05-15 | criteria provided, single submitter | clinical testing | The p.E1540* pathogenic mutation (also known as c.4618G>T), located in coding exon 13 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4618. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. 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. |
| Fulgent Genetics, |
RCV005016340 | SCV005647129 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S | 2024-02-29 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000077580 | SCV000109383 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-10-09 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000077580 | SCV000145130 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-06-20 | no assertion criteria provided | clinical testing |