ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)

gnomAD frequency: 0.00001  dbSNP: rs774461588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852469 SCV000995163 uncertain significance Hypertrophic cardiomyopathy 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001322679 SCV001513562 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2023-01-19 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt KCNJ2 protein function. ClinVar contains an entry for this variant (Variation ID: 691668). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. This variant is present in population databases (rs774461588, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 261 of the KCNJ2 protein (p.Ile261Val).
GeneDx RCV001772152 SCV002002328 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 691668; Landrum et al., 2016)

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