ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)

gnomAD frequency: 0.00001  dbSNP: rs769818698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504398 SCV002814892 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278393 SCV001465406 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734086 SCV005353454 uncertain significance ABCC8-related disorder 2024-04-26 no assertion criteria provided clinical testing The ABCC8 c.3493G>A variant is predicted to result in the amino acid substitution p.Val1165Met. This variant has been reported in individuals with congenital hyperinsulinism and diabetes (Table S4, De Franco et al 2020. PubMed ID: 32027066; Table 4, Elashi et al. 2022. PubMed ID: 36613572). This variant is reported in 0.059% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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