ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)

dbSNP: rs1057516655
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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 RCV002244847 SCV002513290 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 ( rs1057516655) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244848 SCV002513291 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 ( rs1057516655) in neonatal diabetes yet.
Counsyl RCV000409758 SCV000486015 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-03-17 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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