Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000157918 | SCV000207853 | likely pathogenic | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | The Q61R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Q61R occurs at a highly conserved position within the Switch II domain (Wey et al. 2013) and in silico analysis predicts this variant is probably damaging to the protein structure/ function. It is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Missense variants in nearby residues (T581I, G60D, E63K) have been reported in the Human Gene Mutation Database in association with RASopathies (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Genome Diagnostics Laboratory, |
RCV001813393 | SCV002060817 | likely pathogenic | Noonan syndrome and Noonan-related syndrome | 2021-06-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000148033 | SCV000195535 | pathogenic | Linear nevus sebaceous syndrome | 2014-01-15 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000437086 | SCV000504405 | likely pathogenic | Neoplasm | 2015-07-14 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418550 | SCV000504406 | pathogenic | Thyroid tumor | 2014-10-02 | no assertion criteria provided | literature only | |
Yale Center for Mendelian Genomics, |
RCV000662268 | SCV000784596 | likely pathogenic | Vascular Tumors Including Pyogenic Granuloma | 2015-02-19 | no assertion criteria provided | literature only | |
Department of Medical Oncology, |
RCV001844808 | SCV002104179 | pathogenic | Salivary gland neoplasm | no assertion criteria provided | clinical testing |