ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2870G>A (p.Arg957His)

gnomAD frequency: 0.00005  dbSNP: rs775921458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786052 SCV002027820 uncertain significance not provided 2021-05-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29631995, 30354297)
Fulgent Genetics, Fulgent Genetics RCV005050410 SCV005676320 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-05-21 criteria provided, single submitter clinical testing

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