Submissions for variant NM_000352.6(ABCC8):c.207T>C (p.Pro69=)

gnomAD frequency: 0.47531  dbSNP: rs1048099

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000144982	SCV000192018	likely benign	not specified	2013-02-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000144982	SCV000227104	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000144982	SCV000303794	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405380	SCV000369422	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	RCV000314568	SCV000369423	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.
Illumina Laboratory Services, Illumina	RCV000334473	SCV000369424	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.
Athena Diagnostics	RCV000576854	SCV000677117	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576854	SCV001720272	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533252	SCV001749063	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000314568	SCV001749080	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000405380	SCV001749081	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533269	SCV001749082	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000576854	SCV001869180	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21671119)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226679	SCV002505511	uncertain significance	Hyperinsulinemia		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 rs1048099 is prevalent in hyperinsulinemic hypoglycemia in infancy, sufficient evidence is not seen to demonstrate the association of this variant with neonatal diabetes or MODY.
Natera, Inc.	RCV001272249	SCV001454051	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000144982	SCV001743142	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000144982	SCV001959479	benign	not specified		no assertion criteria provided	clinical testing