ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3989-3C>G

dbSNP: rs1324242791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668524 SCV000793143 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-08-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000668524 SCV000915516 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-09-13 criteria provided, single submitter clinical testing The ABCC8 c.3989-3C>G variant is an intronic variant that occurs in a splice region that has been reported in a compound heterozygous state with a missense variant in one individual with hyperinsulinism (Nestorowicz et al. 1998). This individual's unaffected father, who had no history of neonatal hypoglycemia, was also heterozygous for the c.3989-3C>G variant, which was also referred to as c.3992-3C>G. This variant was absent from 100 control individuals and is not reported in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite its location in a region of good sequencing coverage. Functional studies have not been conducted to determine the consequences of this variant. The evidence for this variant is limited. The c.3989-3C>G variant is thus classified as a variant of uncertain significance but suspicious for pathogenicity for hyperinsulinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245552 SCV002513515 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 (rs1324242791) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245551 SCV002513516 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 (rs1324242791) in MODY yet.
GeneDx RCV004719929 SCV005325035 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Functional studies were performed for this variant in the presence of two polymorphisms on the same allele (in cis); therefore, the effect of this variant alone could not be fully assessed (Saint-Martin et al., 2021); Also known as c.3992-3C>G; This variant is associated with the following publications: (PMID: 25525159, 9618169, 21851374, 20685672, 32027066, 9648840, 18767144, 33410562, 11697420)

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