Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000222622 | SCV000276772 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-28 | 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. |
| ARUP Laboratories, |
RCV000755854 | SCV000883461 | likely benign | not provided | 2018-01-03 | criteria provided, single submitter | clinical testing | The BRCA1 c.739A>G; p.Asn247Asp variant is not published in the medical literature or in gene-specific databases. The variant is listed as likely benign in the ClinVar database (Variation ID: 232600). The variant is listed in the dbSNP variant database but is not listed in the general population databases (Exome Variant Server, Genome Aggregation Database). The asparagine at this position is not well conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Additionally, ARUP laboratories has detected this variant in an individual that also carried a pathogenic BRCA1 frameshift variant. Considering available information, this variant is classified as likely benign. |
| University of Washington Department of Laboratory Medicine, |
RCV000222622 | SCV003847978 | 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). |