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: 4
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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
Invitae 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.

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