Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000291285 | SCV000330319 | pathogenic | not provided | 2016-03-22 | criteria provided, single submitter | clinical testing | The Q61P variant in the NRAS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q61P variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q61P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position in codon 61 of the guanosine triphosphate-binding site that is conserved across species. The guanosine trisphophate-binding site is crucial for normal inactivation, and variants located at this site lead to constitutive activation of NRAS (Kinsler et al., 2013). Two missense variants in the same residue (Q61R, Q61K) have been reported previously as somatic alterations in association with congenital melanocytic nevi and thyroid follicular carcinomas and adenomas, supporting the functional importance of this region of the protein (Nikiforova et al., 2003; Dessars et al., 2009; Kinsler et al., 2013; Lim et al., 2014). We interpret Q61P as a pathogenic variant. |
Database of Curated Mutations |
RCV000431592 | SCV000503629 | pathogenic | Melanoma | 2015-07-14 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000444278 | SCV000503630 | likely pathogenic | Acute myeloid leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000427746 | SCV000503631 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000437545 | SCV000503632 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000420302 | SCV000503633 | likely pathogenic | B-cell chronic lymphocytic leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000426654 | SCV000503634 | likely pathogenic | Nasopharyngeal neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000437312 | SCV000503635 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419201 | SCV000503636 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430000 | SCV000503637 | likely pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439765 | SCV000503638 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419053 | SCV000503639 | likely pathogenic | Adrenal cortex carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428903 | SCV000503640 | likely pathogenic | Non-small cell lung carcinoma | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439526 | SCV000503641 | likely pathogenic | Ovarian serous cystadenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421496 | SCV000503642 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000432170 | SCV000503643 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438468 | SCV000503644 | likely pathogenic | Thyroid tumor | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421291 | SCV000503645 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000434604 | SCV000503646 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000444660 | SCV000503647 | likely pathogenic | Papillary renal cell carcinoma type 1 | 2016-05-31 | no assertion criteria provided | literature only | |
Institute Of Reproduction And Development, |
RCV003155143 | SCV003844093 | likely pathogenic | Noonan syndrome 6 | 2021-09-30 | no assertion criteria provided | research |