Total submissions: 28
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037574 | SCV000061232 | pathogenic | Non-small cell lung carcinoma | 2011-08-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000413804 | SCV000490986 | pathogenic | not provided | 2015-05-04 | criteria provided, single submitter | clinical testing | The Q61R missense variant in the NRAS gene has been reported previously in association with NRAS-related disorders (Rivera et al., 2010; Wong et al., 2014). Q61R 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. Functional studies of the Q61R variant have shown that it leads to constitutive ERK signaling and thus dysregulation of the MAPK pathway (Wong et al., 2014). In addition, missense variants in nearby residues (T50I, G60E) have been reported in the Human Gene Mutation Database in association with Noonan syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV000413804 | SCV002525697 | pathogenic | not provided | 2021-09-03 | criteria provided, single submitter | clinical testing | This is a recurrent pathogenic variant that has been reported previously in multiple individuals with kaposiform lymphangiomatosis (KLA), as well as an individual with a generalized lymphatic anomaly (GLA), also known as diffuse lymphangiomatosis (PMID: 30542204, PMID: 31511039, PMID: 29397482). This change is also reported as an oncogenic variant found in multiple tumor types, especially melanoma (COSMIC and cBioPortal Databases). This variant is not present in large population cohorts (Genome Aggregation Database v2.1.1). The p.Gln61Arg variant leads to constitutive activation of the NRAS protein (PMID: 30542204, PMID: 29397482). |
OMIM | RCV000014914 | SCV000035170 | pathogenic | Thyroid cancer, nonmedullary, 2 | 2014-01-15 | no assertion criteria provided | literature only | |
OMIM | RCV000032847 | SCV000056616 | pathogenic | Epidermal nevus | 2014-01-15 | no assertion criteria provided | literature only | |
OMIM | RCV000114744 | SCV000148627 | pathogenic | Large congenital melanocytic nevus | 2014-01-15 | no assertion criteria provided | literature only | |
OMIM | RCV000114745 | SCV000148628 | pathogenic | Neurocutaneous melanocytosis | 2014-01-15 | no assertion criteria provided | literature only | |
OMIM | RCV000148032 | SCV000195534 | pathogenic | Linear nevus sebaceous syndrome | 2014-01-15 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000424960 | SCV000503611 | pathogenic | Melanoma | 2016-03-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435687 | SCV000503612 | pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000037574 | SCV000503613 | pathogenic | Non-small cell lung carcinoma | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000424721 | SCV000503614 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438052 | SCV000503615 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000420832 | SCV000503616 | likely pathogenic | B-cell chronic lymphocytic leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430593 | SCV000503617 | likely pathogenic | Nasopharyngeal neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000441317 | SCV000503618 | likely pathogenic | Acute myeloid leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419710 | SCV000503619 | likely pathogenic | Renal cell carcinoma, papillary, 1 | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430407 | SCV000503620 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440367 | SCV000503621 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422278 | SCV000503622 | likely pathogenic | Ovarian serous cystadenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000432961 | SCV000503623 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439264 | SCV000503624 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422078 | SCV000503625 | likely pathogenic | Adrenal cortex carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431883 | SCV000503626 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000445249 | SCV000503627 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000424455 | SCV000503628 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000413804 | SCV001979371 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000413804 | SCV001980093 | pathogenic | not provided | no assertion criteria provided | clinical testing |