Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661190 | SCV000783445 | 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 | RCV001060311 | SCV001224991 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1334Valfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual with breast cancer (PMID: 17333343). ClinVar contains an entry for this variant (Variation ID: 55070). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |
Clin |
RCV000577525 | SCV000679265 | not provided | Familial cancer of breast | no assertion provided | literature only |