ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)

gnomAD frequency: 0.00004  dbSNP: rs774714794
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389894 SCV000337888 uncertain significance not provided 2015-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000668643 SCV000793277 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000389894 SCV001780686 uncertain significance not provided 2021-09-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24018988, 28587604, 27535533)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227117 SCV002506460 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. This particular variant (rs774714794) of KCNJ11 gene is associated with early-onset type 2 diabetes mellitus. However, more studies are required to ascertain its significance in MODY.
PreventionGenetics, part of Exact Sciences RCV004529469 SCV004104698 uncertain significance KCNJ11-related disorder 2022-09-29 criteria provided, single submitter clinical testing The KCNJ11 c.80G>A variant is predicted to result in the amino acid substitution p.Arg27His. This variant has been reported in five individuals from one family with early-onset type 2 diabetes (Liu et al 2013. PubMed ID: 24018988). In silico analysis of functional effects gave conflicting predications regarding its pathogenicity (Song et al. 2017. PubMed ID: 28587604). This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17409559-C-T). A different variant affecting the same amino acid (p.Arg27Cys) has been reported in an individual with autosomal recessive hyperinsulinism (De Franco et al. 2020. PubMed ID: 32027066). Although we suspect this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001833339 SCV002085204 uncertain significance Permanent neonatal diabetes mellitus 2020-03-19 no assertion criteria provided clinical testing

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