ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) (rs121913240)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038257 SCV000061926 pathogenic Noonan syndrome 2009-11-04 criteria provided, single submitter clinical testing
Invitae RCV001209740 SCV001381189 uncertain significance Rasopathy 2019-05-23 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). 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 C3). 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. 5
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 Neoplasm of the thyroid gland 2014-10-02 no assertion criteria provided literature only

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