ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)

dbSNP: rs565968675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426811 SCV001629472 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245936 SCV002515439 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 ( rs565968675) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245937 SCV002515440 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 ( rs565968675) in neonatal diabetes yet.
Natera, Inc. RCV001278392 SCV001465405 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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