ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)

dbSNP: rs121913529
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004549454 SCV004105185 likely pathogenic KRAS-related disorder 2022-10-12 criteria provided, single submitter clinical testing The KRAS c.35G>C variant is predicted to result in the amino acid substitution p.Gly12Ala. To our knowledge, this variant has not been reported as a germline variant in individuals with Noonan/RASopathy phenotypes. However, several KRAS missense variants affecting Gly12, including p.Gly12Ala, have been reported as a somatic variant in multiple cancers (see for example - Brose et al. 2002. PubMed ID: 12460918; Lièvre et al. 2006. PubMed ID: 16618717). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795958 SCV005416700 pathogenic Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer criteria provided, single submitter clinical testing PM2_Supporting+PM5_Strong+PP3_Moderate+PS4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038266 SCV000061935 pathogenic Non-small cell lung carcinoma 2007-12-07 no assertion criteria provided clinical testing
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center RCV000984117 SCV001132087 pathogenic Multiple myeloma 2019-08-31 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355876 SCV001550889 pathogenic not provided no assertion criteria provided clinical testing
Institute of Medical Sciences, Banaras Hindu University RCV001374446 SCV001571410 pathogenic Gallbladder cancer 2020-10-30 no assertion criteria provided research
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University RCV003996396 SCV004042812 likely pathogenic Lung cancer no assertion criteria provided clinical testing

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