ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)

dbSNP: rs1956875186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329818 SCV001521358 uncertain significance Type 2 diabetes mellitus 2020-08-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Illumina Laboratory Services, Illumina RCV001563593 SCV001786567 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2021-02-10 criteria provided, single submitter clinical testing The ABCC8 c.1096C>T (p.Leu366Phe) variant is a missense variant that has been reported in two studies, in which it was found in a heterozygous state in an individual with persistent congenital hyperinsulinism having been inherited from an unaffected parent. The individual's sister also presented with mild congenital hyperinsulinism, but she was not genotyped (Rasmussen et al. 2020). The p.Leu366Phe variant was also reported in another individual with hyperinsulinism but with unknown zygosity (De Franco et al. 2020). The p.Leu366Phe variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the application of ACMG criteria, the p.Leu366Phe variant is classified as variant of uncertain significance for hyperinsulinemic hypoglycemia.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253805 SCV002522585 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 ( rs1956875186) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002259552 SCV002522586 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 ( rs1956875186) in neonatal diabetes yet.

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