ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)

gnomAD frequency: 0.72048  dbSNP: rs5219
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146116 SCV000193333 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000146116 SCV000224239 benign not specified 2014-11-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294608 SCV000369188 likely benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281825 SCV000369189 likely benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385348 SCV000369190 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576501 SCV000483234 likely benign Hyperinsulinemic hypoglycemia, familial, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001093985 SCV000483235 likely benign Diabetes mellitus, transient neonatal, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000020356 SCV000483236 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576501 SCV000677330 benign Hyperinsulinemic hypoglycemia, familial, 2 2017-04-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105584 SCV001262568 likely benign Maturity-onset diabetes of the young type 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512207 SCV001719579 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001512207 SCV001852181 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28252621, 15111507, 25625107, 25165692, 24332549, 31118516, 29632382, 28082085, 25725792, 27535653, 25955821, 24996284, 26551672, 27398621, 26315042, 9867219, 24741969, 16733889, 24710510, 22163043, 22209866, 24241377, 22264780, 23054005, 23412854, 19498446, 17823772, 19578796, 19685080, 19214942, 22082043, 19491206, 15855351, 12196481, 20424228, 19587354, 17257281, 16455067, 19233137, 22704848, 18758683)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226643 SCV002505643 benign Type 2 diabetes mellitus criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. KCNJ11 rs5219- E23K is associated with Type II Diabetes Mellitus. It doesnt cause any sensitivity towards mild hypoglycemia, an adverse effect of Sulfonylurea treatment.
Breakthrough Genomics, Breakthrough Genomics RCV001512207 SCV005221359 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000009214 SCV000029432 benign Diabetes mellitus type 2, susceptibility to 2009-12-01 no assertion criteria provided literature only
GeneReviews RCV000020356 SCV000040740 not provided Permanent neonatal diabetes mellitus no assertion provided literature only
PreventionGenetics, part of Exact Sciences RCV004734506 SCV000304667 benign KCNJ11-related disorder 2024-04-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000020356 SCV001459969 benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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