ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.183A>C (p.Gln61His)

dbSNP: rs17851045
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002056053 SCV002497209 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408686 SCV002710946 uncertain significance Cardiovascular phenotype 2020-11-10 criteria provided, single submitter clinical testing The p.Q61H variant (also known as c.183A>C), located in coding exon 2 of the KRAS gene, results from an A to C substitution at nucleotide position 183. The glutamine at codon 61 is replaced by histidine, an amino acid with highly similar properties. Somatic mutations impacting codon 61 of the KRAS gene are frequently observed in multiple cancer types; the p.Q61H variant is often identified in colorectal and lung adenocarcinomas as well as hematopoetic/lymphatic neoplasms (Prior IA et al. Cancer Res 2012;72(10):2457-67). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514970 SCV002965319 uncertain significance RASopathy 2022-10-10 criteria provided, single submitter clinical testing 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 177881). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRAS protein function. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 61 of the KRAS protein (p.Gln61His).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154530 SCV000204202 pathogenic Non-small cell lung carcinoma 2014-08-28 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Database of Curated Mutations (DoCM) RCV000444370 SCV000504440 pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424748 SCV000504441 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000154530 SCV000504442 pathogenic Non-small cell lung carcinoma 2014-10-02 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001004043 SCV001162253 likely pathogenic Juvenile myelomonocytic leukemia no assertion criteria provided research

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