Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000162836 | SCV000213323 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-25 | 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 | RCV000924746 | SCV001070267 | likely benign | Fanconi anemia complementation group O | 2023-11-07 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000162836 | SCV001353865 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-22 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001357338 | SCV001552783 | uncertain significance | Endometrial carcinoma | no assertion criteria provided | clinical testing | The RAD51C p.Glu232= variant was not identified in the literature nor was it identified in the Cosmic or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs786201177) as "With Likely benign, Uncertain significance allele" and ClinVar (classified as likely benign by Ambry Genetics). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Glu232= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. However, 1 out of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predicts a greater than 10% difference in splicing. This variant was identified in our laboratory in an individual with a co-occurring pathogenic variant in BRCA1 (c.2411_2412del) with a referral of ovarian cancer increasing the likelihood this variant may not have clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |