ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)

dbSNP: rs121913240
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038257 SCV000061926 pathogenic Noonan syndrome 2009-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001209740 SCV001381189 uncertain significance RASopathy 2019-05-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported as a recurrent variant in tumors (PMID: 26985062); however, this variant has not been reported as a germline variant in affected individuals. ClinVar contains an entry for this variant (Variation ID: 45115). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 61 of the KRAS protein (p.Gln61Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813342 SCV002060771 uncertain significance Noonan syndrome and Noonan-related syndrome 2021-02-03 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000420152 SCV000504446 pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431260 SCV000504447 pathogenic Non-small cell lung carcinoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438012 SCV000504448 pathogenic Thyroid tumor 2014-10-02 no assertion criteria provided literature only
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University RCV003996395 SCV004042811 likely pathogenic Lung cancer no assertion criteria provided clinical testing

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