ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)

gnomAD frequency: 0.00001  dbSNP: rs745372216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208186 SCV000263989 uncertain significance Long QT syndrome 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058883 SCV001223481 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2023-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 423 of the KCNJ2 protein (p.Arg423Gln). This variant is present in population databases (rs745372216, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 222677). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003298274 SCV003999789 uncertain significance Cardiovascular phenotype 2023-03-28 criteria provided, single submitter clinical testing The p.R423Q variant (also known as c.1268G>A), located in coding exon 1 of the KCNJ2 gene, results from a G to A substitution at nucleotide position 1268. The arginine at codon 423 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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