ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)

dbSNP: rs199473655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513763 SCV003442512 pathogenic Andersen Tawil syndrome; Short QT syndrome type 3 2022-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 KCNJ2 protein function. ClinVar contains an entry for this variant (Variation ID: 67582). This missense change has been observed in individuals with clinical features of Andersen-Tawil syndrome (PMID: 20111058, 30533530, 34127479). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 192 of the KCNJ2 protein (p.Thr192Ile).
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058322 SCV000089842 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported in the following publications (PMID:20111058).

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