ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.921G>A (p.Met307Ile)

dbSNP: rs199473658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004017375 SCV004849039 uncertain significance Cardiovascular phenotype 2017-08-17 criteria provided, single submitter clinical testing The c.921G>A (p.M307I) alteration is located in exon 2 (coding exon 1) of the KCNJ2 gene. This alteration results from a G to A substitution at nucleotide position 921, causing the methionine (M) at amino acid position 307 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058337 SCV000089857 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported in the following publications (PMID:17211524).

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