ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2292-1G>A

dbSNP: rs1564905676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328359 SCV001519466 pathogenic Familial hyperinsulinism 2021-03-14 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.2292-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 3' acceptor site. Four predict the variant creates an alternate adjacent 3' acceptor site. However, to our knolwedge, these predictions have yet to be confirmed by functional studies. The variant was absent in 251424 control chromosomes. c.2292-1G>A has been reported in the literature in individuals affected with Congenital Hyperinsulinism (example, Thomas_1996, Meissner_1999, Flanagan_2009, Warncke_2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251423 SCV002522210 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 (rs1564905676) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251422 SCV002522212 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 (rs1564905676) in MODY yet.
OMIM RCV000009658 SCV000029876 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 1996-09-01 no assertion criteria provided literature only

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