ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)

dbSNP: rs1955658642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262625 SCV001440563 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251567 SCV002522275 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 (rs1955658642) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251568 SCV002522276 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 (rs1955658642) in neonatal diabetes yet.

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