ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)

dbSNP: rs1554905662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504191 SCV000592982 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-11-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244970 SCV002513485 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 (rs1554905662) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002274043 SCV002558804 uncertain risk allele Maturity onset diabetes mellitus in young 2024-05-27 criteria provided, single submitter research This variant is found to be a potent moderate impact, deleterious variant with a CADD score of 25.3 and sufficient scientific evidence to support gene-disease correlation. However, since this is not a high impact variant and has no variant evidence, this variant is reclassified as Uncertain Risk Allele

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