ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1143del (p.Glu381fs) (rs1564886349)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust RCV000714903 SCV000845656 likely pathogenic Long QT syndrome 1 2017-09-12 criteria provided, single submitter clinical testing This variant causes a frameshift, and is predicted to cause premature termination. To the best of our knowledge this variant has not been previously reported either in patients or control populations (ExAC database). Truncating variants in a similar region (C-domain) of the protein are known to cause LQTS. This variant is therefore considered to be likely pathogenic

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