Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039418 | SCV001202948 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 837970). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29470806). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1573Metfs*28) 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). |
Molecular Endocrinology Laboratory, |
RCV001772221 | SCV002003975 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001772221 | SCV004212697 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-10-22 | criteria provided, single submitter | clinical testing |