ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)

gnomAD frequency: 0.00002  dbSNP: rs1057523131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431777 SCV000530817 uncertain significance not provided 2016-08-17 criteria provided, single submitter clinical testing The R1098H variant in the ABCC8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1098H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1098H variant is a conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1098H as a variant of uncertain significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250626 SCV002520740 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 (rs1057523131) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250627 SCV002520742 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 (rs1057523131) in neonatal diabetes yet.
Fulgent Genetics, Fulgent Genetics RCV002506059 SCV002814722 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-04-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833551 SCV002075627 uncertain significance Hereditary hyperinsulinism 2019-10-28 no assertion criteria provided clinical testing

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