Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000571229 | SCV000664375 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-09 | 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. |
| Color Diagnostics, |
RCV000571229 | SCV000910049 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-08 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000879771 | SCV001022824 | likely benign | Peutz-Jeghers syndrome | 2023-07-29 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV000879771 | SCV004818917 | likely benign | Peutz-Jeghers syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001356806 | SCV001552071 | likely benign | Familial ovarian cancer | no assertion criteria provided | clinical testing | The STK11 p.Gly279= variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs373021819) , and in 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.Gly279= 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. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |