Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131971 | SCV000187029 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-26 | 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. |
Invitae | RCV001087842 | SCV000289748 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605647 | SCV000729886 | likely benign | not specified | 2017-11-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Counsyl | RCV000077075 | SCV000785431 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000131971 | SCV000909373 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000605647 | SCV000918681 | uncertain significance | not specified | 2023-10-13 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.1609A>G (p.Asn537Asp) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250852 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1609A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Borg_2010, Capanu_2011, Hercules_2022). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20104584, 21520273, 35384527, 30212499). Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Multiple submitters reported the variant with conflicting assessments (likely benign, n=5; uncertain significance, n=3). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000232941 | SCV001133492 | uncertain significance | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131971 | SCV002538042 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-29 | criteria provided, single submitter | curation | |
University of Washington Department of Laboratory Medicine, |
RCV000131971 | SCV003851175 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Sharing Clinical Reports Project |
RCV000077075 | SCV000108872 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-11-11 | no assertion criteria provided | clinical testing |