ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)

gnomAD frequency: 0.00001  dbSNP: rs1591794603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975347 SCV001123230 likely benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251756 SCV002522254 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 (rs1591794603) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267053 SCV002522255 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 (rs1591794603) in neonatal diabetes yet.

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