Submissions for variant NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)

gnomAD frequency: 0.00120  dbSNP: rs5214

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146100	SCV000193317	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146100	SCV000304661	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364041	SCV000369155	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	RCV000390216	SCV000369156	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	RCV000315234	SCV000369157	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	RCV000969056	SCV001116547	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000969056	SCV001872092	benign	not provided	2019-12-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10338089)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002227071	SCV002506478	uncertain significance	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of this particular variant (rs5214) in MODY yet.
Ambry Genetics	RCV002426703	SCV002731039	likely benign	Inborn genetic diseases	2022-03-30	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.
Natera, Inc.	RCV001831929	SCV002085093	benign	Permanent neonatal diabetes mellitus	2020-09-25	no assertion criteria provided	clinical testing