ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)

dbSNP: rs387906408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516204 SCV000612216 pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243632 SCV002513456 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 ( rs387906408) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243633 SCV002513457 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 ( rs387906408) in neonatal diabetes yet.
OMIM RCV000009668 SCV000029886 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2003-09-01 no assertion criteria provided literature only

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