ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)

gnomAD frequency: 0.00001  dbSNP: rs1256418853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000929723 SCV001075359 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002290980 SCV002522583 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 ( rs1256418853) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253694 SCV002522584 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 ( rs1256418853) in neonatal diabetes yet.
Natera, Inc. RCV001276285 SCV001462394 uncertain significance Hereditary hyperinsulinism 2020-03-11 no assertion criteria provided clinical testing

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