ClinVar Miner

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

gnomAD frequency: 0.01325  dbSNP: rs1800853
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Total submissions: 11
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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,PreventionGenetics RCV000144997 SCV000303809 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001523332 SCV001733024 benign not provided 2021-12-18 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.
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

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