ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1467+9C>T

gnomAD frequency: 0.00001  dbSNP: rs774224706
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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 RCV000928712 SCV001074327 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253693 SCV002522405 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 (rs774224706) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002252268 SCV002522406 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 (rs774224706) in neonatal diabetes yet.

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