ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs)

dbSNP: rs2116964263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002208753 SCV002495815 pathogenic Short QT syndrome type 1; Long QT syndrome 2 2022-01-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 22 nucleotides at position 1582 and creates a premature stop codon 30 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Hedley 2009 PMID:19862833). In summary, this variant is classified as pathogenic.

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