Submissions for variant NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)

gnomAD frequency: 0.00029  dbSNP: rs116392938

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194182	SCV000247654	likely benign	not specified	2019-05-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000194182	SCV000304670	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000960925	SCV001107954	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103552	SCV001260325	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001105472	SCV001262440	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001105473	SCV001262441	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000960925	SCV001790225	likely benign	not provided	2020-11-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26740944)
Athena Diagnostics	RCV000194182	SCV001880049	benign	not specified	2020-09-30	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002227089	SCV002505935	uncertain significance	Hyperinsulinemia		criteria provided, single submitter	research	Mutations in KCNJ11 gene can generally cause decreased production and secretion of insulin. This can lead to MODY. However, the role of this particular variant (rs116392938) of KCNJ11 gene in congenital hyperinsulinism and MODY remains uncertain.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000960925	SCV003799950	likely benign	not provided	2022-09-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165435	SCV003904823	likely benign	Inborn genetic diseases	2023-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000960925	SCV004136021	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	KCNJ11: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000960925	SCV002034903	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000960925	SCV002036849	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833136	SCV002085115	likely benign	Permanent neonatal diabetes mellitus	2019-10-22	no assertion criteria provided	clinical testing