Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661212 | SCV000783472 | 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. |
Invitae | RCV001383271 | SCV001582359 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-10-18 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 29852322). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 433699). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn665Thrfs*36) 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). |
Department of Pathology and Laboratory Medicine, |
RCV000502040 | SCV000591361 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |