ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)

dbSNP: rs1554916621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667679 SCV000792165 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-06-19 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251747 SCV002522160 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 ( rs1554916621) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267003 SCV002522161 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 (rs1554916621) in neonatal diabetes yet.

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