ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)

dbSNP: rs587783666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146103 SCV000193320 uncertain significance Hyperinsulinemic hypoglycemia, familial, 2 2014-02-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227072 SCV002505933 benign Hyperinsulinemic hypoglycemia criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. This particular variant rs587783666 is associated with persistent hyperinsulinemic hypoglycemia of infancy.
Labcorp Genetics (formerly Invitae), Labcorp RCV005089683 SCV005835828 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 54 of the KCNJ11 protein (p.Arg54His). This variant is present in population databases (rs587783666, gnomAD 0.0009%). This missense change has been observed in individual(s) with congenital hyperinsulinism (PMID: 23345197). ClinVar contains an entry for this variant (Variation ID: 158673). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt KCNJ11 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003445560 SCV004174091 likely pathogenic Maturity-onset diabetes of the young type 13 no assertion criteria provided clinical testing

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