Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241420 | SCV000300029 | 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. |
Baylor Genetics | RCV000241420 | SCV004216982 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV005090250 | SCV005759040 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-06-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1286Valfs*21) 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: 254445). For these reasons, this variant has been classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000241420 | SCV000053732 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-12-22 | no assertion criteria provided | clinical testing |