ClinVar Miner

Submissions for variant NC_000007.14:g.150952854dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018360 SCV004848106 likely pathogenic Congenital long QT syndrome 2019-01-28 criteria provided, single submitter clinical testing The p.Val377fs variant in KCNH2 has not been previously reported in individuals with Long QT syndrome or in large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 377 and leads to a premature termination codon 11 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Val377fs variant is likely pathogenic.

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