ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3034G>A (p.Val1012Met) (rs1799816)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000175131 SCV000151454 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175131 SCV000226563 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344820 SCV000415459 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445519 SCV000537110 benign Monogenic diabetes 2018-01-08 criteria provided, single submitter research ACMG criteria: PP3 (8 predictors), BS2 (107 controls in T2DM and 92 cases in type2diabetesgenetics.org), BS1 (1.53% in South Asian population in 1000g and 2.25% in ExAC South Asian pop), BP6 (Benign from Emory, but conflicting data (VUS from Chicago, LB from Illumina and Children's Mercy)=benign
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515071 SCV000609894 likely benign not provided 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000515071 SCV001028041 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000344820 SCV001140958 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001132183 SCV001291837 benign Leprechaunism syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001132184 SCV001291838 benign Pineal hyperplasia AND diabetes mellitus syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
OMIM RCV000015822 SCV000036089 uncertain significance Diabetes mellitus type 2 1999-03-01 no assertion criteria provided literature only

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