ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1467+1G>T

dbSNP: rs1554933415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672183 SCV000797263 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-01-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002252207 SCV002522409 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 (rs1554933415) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002252208 SCV002522410 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 (rs1554933415) in neonatal diabetes yet.
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child RCV000672183 SCV005187333 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2024-08-07 no assertion criteria provided clinical testing ABCC8 NM_000352.6: c.1467+1G>T variant, is a splicing variant, changing a canonical nucleotide in splicing donor site. Variant identified in patient diagnose with hyperinsulinemic hypoglycemia [HP_0000825] and Large for gestational age [HP_0001520]. Phenotype classified, according to OMIM, as one of the ABCC8 spectrum disorders; * 600509; Hyperinsulinemic hypoglycemia familial 1; # 256450 Variant classified as Likely Pathogenic due to: lack in the gnomAD population databases [PM2 moderate], loss of function mutation, known mechanism of disease [PS1 strong], variant was reported pathogenic [PP5 supporting], ClinVar RCV000672183.1. The c.1467+1G>T variant was of paternal origin reduced penetrance cannot be excluded according to avaiable data Nessa A et al. Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8, Human Molecular Genetics, Volume 24, Issue 18, September 2015, Pages 5142–5153

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