ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)

gnomAD frequency: 0.00003  dbSNP: rs149667199
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Total submissions: 5
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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, Uppaluri K&H Personalized Medicine Clinic 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, 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 (formerly Invitae), Labcorp 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.
PreventionGenetics, part of Exact Sciences 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.

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