ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)

gnomAD frequency: 0.00001  dbSNP: rs745591375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820556 SCV002070144 uncertain significance not specified 2020-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478058 SCV002788299 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003107857 SCV003783757 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 933 of the ABCC8 protein (p.Arg933Gln). This variant is present in population databases (rs745591375, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of hyperinsulinism (PMID: 32027066). ClinVar contains an entry for this variant (Variation ID: 1337542). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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