Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000480995 | SCV000572263 | uncertain significance | not provided | 2016-11-11 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA1 c.486G>A at the DNA level. Although this variant is silent at the coding level, preserving a Valine at codon 162, it is predicted to result in the creation of a cryptic splice donor site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRCA1 c.486G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 486, is not conserved. Based on currently available information, it is unclear whether BRCA1 c.486G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Ambry Genetics | RCV001023176 | SCV001185011 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-20 | 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 | RCV001496772 | SCV001701483 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-06-05 | criteria provided, single submitter | clinical testing |