Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000495573 | SCV000578102 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
| Ambry Genetics | RCV000166575 | SCV000217377 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV000166575 | SCV000688557 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-16 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589615 | SCV000699232 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.5280C>A (p.Ile1760Ile) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251176 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5280C>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
| Invitae | RCV001500110 | SCV001704891 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-03-03 | criteria provided, single submitter | clinical testing | |
| Brotman Baty Institute, |
RCV000495573 | SCV001238066 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |