ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp)

dbSNP: rs1554906389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664137 SCV000787589 uncertain significance Monogenic diabetes 2017-08-01 criteria provided, single submitter research ACMG Criteria:PP3 (6 predictors), BP4 (3 predictors), PM2 (absent in database)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246127 SCV002513764 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 (rs1554906389) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246126 SCV002513765 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 (rs1554906389) in MODY yet.

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