Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077157 | SCV000300221 | 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. |
Counsyl | RCV000077157 | SCV000786464 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2018-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000794193 | SCV000933587 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-04-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1729Argfs*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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91640). For these reasons, this variant has been classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000077157 | SCV000108954 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2009-04-17 | no assertion criteria provided | clinical testing |