Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661239 | SCV000783501 | 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. |
Ambry Genetics | RCV000217364 | SCV000278030 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-13 | criteria provided, single submitter | clinical testing | The c.1836dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1836, causing a translational frameshift with a predicted alternate stop codon (p.R613Efs*12). 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. |
Invitae | RCV000697293 | SCV000825893 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg613Glufs*12) 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: 233617). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000661239 | SCV004216914 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-09-04 | criteria provided, single submitter | clinical testing |