Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000773056 | SCV000906465 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000935513 | SCV001081262 | likely benign | Peutz-Jeghers syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000773056 | SCV002641303 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-28 | 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. |
| All of Us Research Program, |
RCV000935513 | SCV004816366 | likely benign | Peutz-Jeghers syndrome | 2023-07-10 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001354800 | SCV001549501 | likely benign | Familial ovarian cancer | no assertion criteria provided | clinical testing | The STK11 p.His168= variant was not identified in the literature nor was it identified in the ClinVar, or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs754986576). The variant was identified in control databases in 1 of 230926 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 1 of 104608 chromosomes (freq: 0.00001), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.His168= 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. |