ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)

dbSNP: rs1225850029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664521 SCV000788496 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816665 SCV002065923 uncertain significance not specified 2022-01-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251493 SCV002521914 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 ( rs1225850029) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251494 SCV002521915 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 ( rs1225850029) in neonatal diabetes yet.

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