ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) (rs41282930)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030102 SCV000052757 likely benign Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000146102 SCV000193319 benign not specified 2013-10-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146102 SCV000304665 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342808 SCV000369149 benign Maturity-onset diabetes of the young, type 13 2018-01-13 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 RCV000395172 SCV000369150 uncertain significance Hyperinsulinemic hypoglycemia, familial, 2 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000284629 SCV000369151 benign Transient neonatal diabetes mellitus 3 2018-01-13 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 RCV000445546 SCV000537076 benign Monogenic diabetes 2019-02-22 criteria provided, single submitter research ACMG criteria: BA1 (2.4% in Africans in gnomAD) + BS2 (125 controls and 75 cases in T2D) (removed BP4 because of conflicting evidence: BP4 [4 predictors]; PP3 [6 predictors], REVEL=0.369)=benign
Athena Diagnostics Inc RCV000712157 SCV000842582 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000712157 SCV001102130 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000395172 SCV001652876 likely benign Hyperinsulinemic hypoglycemia, familial, 2 2021-05-18 criteria provided, single submitter clinical testing

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