ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.823-8C>T

gnomAD frequency: 0.00014  dbSNP: rs201000679
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145006 SCV000192042 likely benign not specified 2013-10-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253240 SCV002522625 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 ( rs201000679) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002273818 SCV002522626 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 ( rs201000679) in neonatal diabetes yet.
New York Genome Center RCV002467586 SCV002764519 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3 2022-01-14 criteria provided, single submitter clinical testing The heterozygous c.823-8C>T variant identified in the ABCC8 gene is a non-canonical splicing region variant at the -8 position within intron 5/38. This variant is found with low frequency in gnomAD(v3.1.2)(18 heterozygotes, 0 homozygotes; allele frequency: 1.182e-4) suggesting it is not a common benign variant in the populations represented in that database. In silico splicing algorithms SpliceAI and Transcript inferred Pathogenicity Score (TraP) do not predict this variant has a high probability of altering splicing (SpliceAI delta:0.08 (Acceptor Gain, -8bp); TraP Score 0.038 (25-50% score-percentile)). This variant was reported by a single lab in 2013 as Likely Benign in ClinVar (VarID:157708), although the evidence used for that classification was not available for review. To our current knowledge this variant has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the heterozygous c.823-8C>T variant identified in the ABCC8 gene is reported as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514783 SCV003452935 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532639 SCV004711086 likely benign ABCC8-related disorder 2020-12-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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