Submissions for variant NM_000352.6(ABCC8):c.3867+7G>A

gnomAD frequency: 0.00049  dbSNP: rs372198547

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517107	SCV000612211	uncertain significance	not specified	2016-08-03	criteria provided, single submitter	clinical testing
Counsyl	RCV000665490	SCV000789621	uncertain significance	Hyperinsulinemic hypoglycemia, familial, 1	2017-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000665490	SCV000915310	uncertain significance	Hyperinsulinemic hypoglycemia, familial, 1	2017-09-27	criteria provided, single submitter	clinical testing	The ABCC8 c.3867+7G>A variant, also referred to as c.3870+7G>A, has been reported in two studies in which is found in a total of two patients with hyperinsulinism, including in one in a compound heterozygous state and one in a heterozygous state in whom a second variant was not identified (Banerjee et al. 2011, Kapoor et al. 2013). Control data are unavailable for this variant, which is reported at a frequency of 0.00082 in the European American population of the Exome Sequencing Project. The evidence for this variant is limited. The c.3867+7G>A variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for hyperinsulinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876491	SCV001019070	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107658	SCV001264833	benign	Diabetes mellitus, transient neonatal, 2	2017-05-09	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001107659	SCV001264834	uncertain significance	Permanent neonatal diabetes mellitus	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago	RCV000517107	SCV002066198	likely benign	not specified	2021-07-23	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002246124	SCV002513759	uncertain significance	Maturity onset diabetes mellitus in young		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 better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs372198547) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002246125	SCV002513760	uncertain significance	Transitory neonatal diabetes mellitus		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 better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs372198547) in neonatal diabetes yet.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000876491	SCV001799801	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000876491	SCV001971019	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535667	SCV004725107	likely benign	ABCC8-related disorder	2021-04-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).