ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)

gnomAD frequency: 0.00001  dbSNP: rs748585974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251575 SCV002521957 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 (rs748585974) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002274176 SCV002521959 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 ( rs748585974) in neonatal diabetes yet.
Fulgent Genetics, Fulgent Genetics RCV002493476 SCV002785659 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278403 SCV001465416 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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