ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)

gnomAD frequency: 0.00007  dbSNP: rs376080397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751541 SCV001995913 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV002468210 SCV002764293 uncertain significance Type 2 diabetes mellitus 2021-07-13 criteria provided, single submitter clinical testing The heterozygous c.1457G>A (p.Arg486Gln) missense variant identified in the ABCC8 gene has not been reported in affected individuals in the literature. The variant has 0.00007232 allele frequency in the gnomAD(v3) database (11 out of 152092 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. The variant affects an evolutionarily conserved residue. In Silico tools provide conflicting predictions about potential pathogenicity of this variant (CADD score = 24.8, REVEL score = 0.240). Based on the available evidence, the heterozygous c.1457G>A(p.Arg486Gln) missense variant identified in the ABCC8 gene is reported as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002480910 SCV002780270 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-02-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279191 SCV001466274 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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