Submissions for variant NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)

gnomAD frequency: 0.71351  dbSNP: rs5215

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146099	SCV000193316	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146099	SCV000304660	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357357	SCV000369161	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.
Illumina Laboratory Services, Illumina	RCV000262909	SCV000369162	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	RCV000576497	SCV000369163	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.
Athena Diagnostics	RCV000146099	SCV000677327	benign	not specified	2021-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV001512206	SCV001719578	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000262909	SCV001749014	benign	Diabetes mellitus, transient neonatal, 3	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533219	SCV001749015	benign	Diabetes mellitus, permanent neonatal 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000576497	SCV001749032	benign	Hyperinsulinemic hypoglycemia, familial, 2	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001512206	SCV001871118	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31118516, 30389748, 26551672, 27398621, 17257281, 22958899)
Natera, Inc.	RCV001275131	SCV001459962	benign	Permanent neonatal diabetes mellitus	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000146099	SCV001741294	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000146099	SCV001951580	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002221500	SCV002498735	association	Type 2 diabetes mellitus		no assertion criteria provided	research	Mutations can cause decreased production of insulin and secretion. This can lead to MODY which is responsive to oral sulfonylureas.