Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583504 | SCV000688545 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000779896 | SCV000916793 | uncertain significance | not specified | 2018-08-20 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.5193+19A>G 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. 5/5 computational tools predict no significant impact to normal splicing. However, these predictions have yet to be functionally assessed. The variant was absent in 245844 control chromosomes (gnomAD). 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.5193+19A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Invitae | RCV000920541 | SCV001065910 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001076178 | SCV001241876 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |