ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2475+19G>A

gnomAD frequency: 0.00001  dbSNP: rs373894772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672364 SCV000797462 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2018-01-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251748 SCV002522157 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 ( rs373894772) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251749 SCV002522158 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 ( rs373894772) in neonatal diabetes yet.

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