ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)

gnomAD frequency: 0.16150  dbSNP: rs1799858
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000144981 SCV000226016 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000144981 SCV000303793 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378609 SCV000369353 benign Diabetes mellitus, transient neonatal, 2 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000286519 SCV000369354 benign 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000576654 SCV000369355 benign Hyperinsulinemic hypoglycemia, familial, 1 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics RCV000576654 SCV000677116 benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512802 SCV001720269 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533246 SCV001749051 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576654 SCV001749052 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000378609 SCV001749053 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533247 SCV001749054 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512802 SCV001900670 benign not provided 2018-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14551916)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226678 SCV002505508 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. However, though the prevalence of rs1799858 in congenital hyperinsulinism of Infancy is seen, there is no sufficient evidence to show association of this variant with neonatal diabetes or MODY.
Genetic Services Laboratory, University of Chicago RCV000144981 SCV000192017 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001272235 SCV001454037 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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