Submissions for variant NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)

gnomAD frequency: 0.71935  dbSNP: rs757110

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000144996	SCV000303808	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269263	SCV000369248	benign	Hyperinsulinism, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326750	SCV000369249	benign	Transient Neonatal Diabetes, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388290	SCV000369250	benign	Permanent neonatal diabetes mellitus	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576686	SCV000677122	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000144996	SCV000703631	benign	not specified	2017-02-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576686	SCV001720263	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533268	SCV001749079	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533270	SCV001749083	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533271	SCV001749084	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533272	SCV001749085	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576686	SCV001850606	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28411266, 25955821, 26551672, 27398621, 11117432, 22209866, 17823772, 25143473, 22187380, 19587354)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226425	SCV002505384	benign	Type 2 diabetes mellitus		criteria provided, single submitter	research	Mutations in this gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation have a better response to sulfonylureas. It doesn't cause any sensitivity toward mild hypoglycemia, an adverse effect of Sulfonylurea treatment.
Breakthrough Genomics, Breakthrough Genomics	RCV000576686	SCV005323553	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000144996	SCV000192032	likely benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001277184	SCV001464082	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing