ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)

dbSNP: rs763104338
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Total submissions: 4
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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 RCV000445502 SCV000537078 uncertain significance Monogenic diabetes 2016-08-16 criteria provided, single submitter research ACMG Criteria: PP3, BP4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246123 SCV002513530 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 (rs763104338) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246122 SCV002513531 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 (rs763104338) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002481354 SCV002789402 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-12-21 criteria provided, single submitter clinical testing

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