ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1923+3G>A

gnomAD frequency: 0.00028  dbSNP: rs374869130
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267091 SCV002522309 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 ( rs374869130) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267090 SCV002522310 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 ( rs374869130) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002493477 SCV002793708 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541682 SCV003546435 uncertain significance Inborn genetic diseases 2022-11-15 criteria provided, single submitter clinical testing The c.1923+3G>A intronic alteration consists of a G to A substitution 3 nucleotides after coding exon 13 of the ABCC8 gene. Based on data from the Genome Aggregation Database (gnomAD) database, the ABCC8 c.1923+3G>A alteration was observed in 0.01% (24/282294) of total alleles studied, with a frequency of 0.09% (23/24958) in the African subpopulation. This nucleotide position is not conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699258 SCV005204781 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094308 SCV005775326 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ABCC8 gene. It does not directly change the encoded amino acid sequence of the ABCC8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs374869130, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 990408). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001278415 SCV001465428 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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