ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.526dup (p.Val176fs)

dbSNP: rs1847952281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250143 SCV001424348 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254205 SCV002524053 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 (rs1847952281) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254206 SCV002524054 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 (rs1847952281) in neonatal diabetes yet.

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