Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667888 | SCV000792400 | uncertain significance | Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002226726 | SCV002505430 | uncertain significance | 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. However, no sufficient evidence is found to ascertain the role of rs149667199 variant in MODY yet. | |
Fulgent Genetics, |
RCV002493096 | SCV002793706 | uncertain significance | Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002530727 | SCV003439572 | uncertain significance | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 285 of the KCNJ11 protein (p.Val285Ile). This variant is present in population databases (rs149667199, gnomAD 0.008%). This missense change has been observed in individual(s) with early onset diabetes (PMID: 22831748). ClinVar contains an entry for this variant (Variation ID: 552596). 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 KCNJ11 protein function. 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. |
Prevention |
RCV004735734 | SCV005362856 | uncertain significance | KCNJ11-related disorder | 2024-04-10 | no assertion criteria provided | clinical testing | The KCNJ11 c.853G>A variant is predicted to result in the amino acid substitution p.Val285Ile. This variant was reported in an individual with transient neonatal diabetes (Jahnavi et al 2013. PubMed ID: 22831748). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |