ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr)

dbSNP: rs1955706366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267092 SCV002522331 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 (rs1955706366) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267093 SCV002522332 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 ( rs1955706366) in neonatal diabetes yet.
Natera, Inc. RCV001279186 SCV001466269 uncertain significance Hereditary hyperinsulinism 2020-08-28 no assertion criteria provided clinical testing

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