ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2390+219T>C

gnomAD frequency: 0.89524  dbSNP: rs4148632
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001533220 SCV001749016 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533221 SCV001749017 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533222 SCV001749018 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533282 SCV001749098 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001615250 SCV001840311 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285176 SCV002574774 benign 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 ( rs4148632) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002285177 SCV002574775 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 (rs4148632) in neonatal diabetes yet.

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