ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)

dbSNP: rs28936370
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851770 SCV002261733 likely pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects ABCC8 function (PMID: 15356046). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCC8 protein function. ClinVar contains an entry for this variant (Variation ID: 9098). This variant is also known as c.4058G>A, p.R1353H. This missense change has been observed in individuals with autosomal dominant familial hyperinsulinism and/or Maturity-onset diabetes of the young (PMID: 15356046, 23563683, 31110826, 31604004, 34462253). This variant has been reported in individual(s) with autosomal dominant early onset diabetes mellitus (PMID: 31110826, 31604004); however, the role of the variant in this condition is currently unclear. This variant is present in population databases (rs28936370, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1352 of the ABCC8 protein (p.Arg1352His).
Baylor Genetics RCV003466845 SCV004209686 likely pathogenic Type 2 diabetes mellitus 2023-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042020 SCV005683387 pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-02-05 criteria provided, single submitter clinical testing
GeneDx RCV001851770 SCV005848241 uncertain significance not provided 2024-08-14 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: 34631896, 22134088, 15356046, 34462253, 38366195, 31264968, 23563683, 31604004, 37895301, 21536946, 31110826, 36208030, 33046911, 35029855)
OMIM RCV000009666 SCV000029884 pathogenic Leucine-induced hypoglycemia 2004-09-01 no assertion criteria provided literature only

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