Submissions for variant NM_000352.6(ABCC8):c.579+14C>T

gnomAD frequency: 0.46493  dbSNP: rs2301703

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145005	SCV000303815	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340412	SCV000369398	benign	Permanent neonatal diabetes mellitus	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000378527	SCV000369399	benign	Diabetes mellitus, transient neonatal, 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000286439	SCV000369400	benign	Hyperinsulinemic hypoglycemia, familial, 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000576808	SCV000677123	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576808	SCV001729173	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533250	SCV001749059	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000286439	SCV001749060	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000378527	SCV001749061	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533251	SCV001749062	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576808	SCV001937778	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226684	SCV002505507	uncertain significance	Type 2 diabetes mellitus		criteria provided, single submitter	research	Mutations in ABCC8 gene are generally associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may respond to sulfonylureas. Although, rs2301703 prevalence in Neonatal Diabetes mellitus is seen, its association with T2DM is yet to be ascertained.
Genetic Services Laboratory, University of Chicago	RCV000145005	SCV000192041	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145005	SCV001741716	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145005	SCV001954476	benign	not specified		no assertion criteria provided	clinical testing