ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.512dup (p.Thr172fs)

dbSNP: rs1564980510
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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 RCV002254153 SCV002524059 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 ( rs1564980510) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254154 SCV002524060 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 ( rs1564980510) in neonatal diabetes yet.
OMIM RCV000032667 SCV000056430 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2012-05-01 no assertion criteria provided literature only

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