ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)

dbSNP: rs778961697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983080 SCV001131099 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245814 SCV002515435 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 ( rs778961697) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245815 SCV002515436 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 ( rs778961697) in neonatal diabetes yet.

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