Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000218881 | SCV000274541 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000218881 | SCV001348057 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-04 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193803 | SCV001362921 | uncertain significance | not specified | 2019-10-24 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.302-5T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant to slightly weaken a 3' acceptor site. However, the variant was shown to have no impact on splicing based on patient mRNA (Leman_2018, Gelli_2019). The variant was absent in 250406 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.302-5T>C has been reported in the literature in an individual affected with Hereditary Breast and Ovarian Cancer (Manguoglu_2010). This report does not provide an unequivocal conclusion about association of the variant with Hereditary Breast and Ovarian Cancer. A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as a VUS - possibly benign variant. |
| Invitae | RCV002057189 | SCV002417483 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
| Center for Genomic Medicine, |
RCV001193803 | SCV002551061 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |