ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)

dbSNP: rs1555603974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389262 SCV001590559 pathogenic Andersen Tawil syndrome; Short QT syndrome type 3 2017-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation downstream of this variant (p.Ser369*) has been determined to be pathogenic (PMID: 21493816). This suggests that deletion of this region of the KCNJ2 protein is causative of disease. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KCNJ2-related disease. This sequence change results in a premature translational stop signal in the last exon of the KCNJ2 mRNA at codon 239 (p.Glu239*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 189 amino acids of the KCNJ2 protein.

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