ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV003228861 SCV003925665 likely pathogenic Andersen Tawil syndrome criteria provided, single submitter research
Ambry Genetics RCV004285631 SCV005036752 uncertain significance Cardiovascular phenotype 2024-03-13 criteria provided, single submitter clinical testing The p.V200M variant (also known as c.598G>A), located in coding exon 1 of the KCNJ2 gene, results from a G to A substitution at nucleotide position 598. The valine at codon 200 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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