ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)

dbSNP: rs104894579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268135 SCV001446813 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764732 SCV004571381 pathogenic Andersen Tawil syndrome; Short QT syndrome type 3 2022-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly300 amino acid residue in KCNJ2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12163457, 16419128, 17221872, 31737537). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 67588). This missense change has been observed in individuals with Andersen-Tawil syndrome (PMID: 12796536, 15911703, 31567646). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 300 of the KCNJ2 protein (p.Gly300Asp).
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058330 SCV000089850 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported in the following publications (PMID:12796536;PMID:15831539;PMID:16217063).
GeneReviews RCV000194837 SCV000243877 not provided Andersen Tawil syndrome no assertion provided literature only

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