ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)

gnomAD frequency: 0.00008  dbSNP: rs150956385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504507 SCV000592965 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000977798 SCV001125719 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002266970 SCV002522399 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 (rs150956385) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002266971 SCV002522400 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 (rs150956385) in neonatal diabetes yet.

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