Submissions for variant NM_000352.6(ABCC8):c.4120-19C>T

gnomAD frequency: 0.01325  dbSNP: rs1800853

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000144997	SCV000051905	benign	not specified	2016-05-16	criteria provided, single submitter	clinical testing	Variant summary: The ABCC8 c.4120-19C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. This variant was found in 604/26462 control chromosomes (11 homozygotes) at a frequency of 0.0228252, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic ABCC8 variant (2.1e-8), suggesting this variant is a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together and based on the prevalence in general population this variant is classified as Benign.
PreventionGenetics, part of Exact Sciences	RCV000144997	SCV000303809	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523332	SCV001733024	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533256	SCV001749067	benign	Leucine-induced hypoglycemia	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533257	SCV001749068	benign	Hyperinsulinemic hypoglycemia, familial, 1	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533258	SCV001749069	benign	Diabetes mellitus, transient neonatal, 2	2021-07-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001533259	SCV001749070	benign	Diabetes mellitus, permanent neonatal 3	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001523332	SCV001856607	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16429405, 33410562, 27884173)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002226656	SCV002505512	uncertain significance	Hyperinsulinemia		criteria provided, single submitter	research	Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a response to sulfonylureas. Although rs1800853 is prevalent in hyperinsulinemic hypoglycemia in infancy, sufficient evidence is not seen to demonstrate the association of this variant with neonatal diabetes or MODY.
CeGaT Center for Human Genetics Tuebingen	RCV001523332	SCV004136027	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ABCC8: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001523332	SCV004564120	benign	not provided	2023-09-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000144997	SCV000192033	likely benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001277183	SCV001464081	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing