Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000132217 | SCV000187299 | benign | Hereditary cancer-predisposing syndrome | 2024-02-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
| Invitae | RCV001043772 | SCV001207534 | likely benign | Peutz-Jeghers syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000132217 | SCV001351981 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-23 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 356 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast or ovarian cancer (PMID: 32068069). This variant has been identified in 2/245160 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Genome- |
RCV001043772 | SCV002057915 | uncertain significance | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing |