ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)

gnomAD frequency: 0.00001  dbSNP: rs565662182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267020 SCV002522329 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 (rs565662182) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267021 SCV002522330 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 ( rs565662182) in neonatal diabetes yet.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723284 SCV000854673 uncertain significance ABCC8-related disorder 2018-05-07 no assertion criteria provided clinical testing

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