ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)

gnomAD frequency: 0.00001  dbSNP: rs587783668
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146106 SCV000193323 uncertain significance Diabetes mellitus 2013-02-08 criteria provided, single submitter clinical testing
Counsyl RCV000665154 SCV000789223 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-01-19 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227074 SCV002506461 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, this particular variant (rs587783668) association with MODY remains uncertain. More studies are required to ascertain its role in MODY.
Fulgent Genetics, Fulgent Genetics RCV002483282 SCV002786379 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 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514817 SCV003516446 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 155 of the KCNJ11 protein (p.Val155Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs587783668, ExAC 0.002%). This variant has not been reported in the literature in individuals with KCNJ11-related conditions. ClinVar contains an entry for this variant (Variation ID: 158675). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001277850 SCV001464829 uncertain significance Permanent neonatal diabetes mellitus 2020-04-13 no assertion criteria provided clinical testing

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