ClinVar Miner

Submissions for variant NM_018217.3(EDEM2):c.1271G>A (p.Arg424His)

gnomAD frequency: 0.00001  dbSNP: rs996131573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Research Department, King Abdullah International Medical Research Center RCV001003517 SCV001160720 uncertain significance Maturity onset diabetes mellitus in young 2019-11-01 no assertion criteria provided clinical testing The Arg424His variant in EDEM2 located in a highly conserved amino acid region with arginine conserved up to Saccharomyces cerevisiae. Prediction software SIFT, PolyPhen-2, PROVEAN and PhD-SNP predicted the variant to be deleterious. Additionally, in vitro functional studies indicate that the EDEM2 disruption reduces the expression of beta-cell genes involved in the glucose-stimulated insulin secretion (GSIS) pathway leading to an overall suppression of insulin secretion.

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