ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)

gnomAD frequency: 0.00001  dbSNP: rs746522890
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493275 SCV000582094 uncertain significance not provided 2024-08-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31847883)
Labcorp Genetics (formerly Invitae), Labcorp RCV001368294 SCV001564683 uncertain significance Long QT syndrome 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 222 of the KCNJ5 protein (p.Gly222Asp). This variant is present in population databases (rs746522890, gnomAD 0.003%). This missense change has been observed in individual(s) with KCNJ5-related conditions (PMID: 31847883). ClinVar contains an entry for this variant (Variation ID: 429508). 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 KCNJ5 protein function with a positive predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002489207 SCV002798277 uncertain significance Long QT syndrome 13; Familial hyperaldosteronism type III 2022-01-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.