Submissions for variant NM_000352.6(ABCC8):c.1686C>T (p.His562=)

gnomAD frequency: 0.44260  dbSNP: rs1799857

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000144979	SCV000303791	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402117	SCV000369365	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	RCV000302706	SCV000369366	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	RCV000576376	SCV000369367	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 Inc	RCV000144979	SCV000677115	benign	not specified	2021-03-09	criteria provided, single submitter	clinical testing
Invitae	RCV001520136	SCV001729172	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533248	SCV001749055	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000576376	SCV001749056	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000302706	SCV001749057	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533249	SCV001749058	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001520136	SCV001911548	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226677	SCV002505636	uncertain significance	Cerebral edema		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. However, there is insufficient data to support the role of rs1799857 in Diabetes Mellitus.
Genetic Services Laboratory, University of Chicago	RCV000144979	SCV000192015	likely benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001272238	SCV001454040	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000144979	SCV001742252	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000144979	SCV001958884	benign	not specified		no assertion criteria provided	clinical testing