ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2086_2092dup (p.Val698fs) (rs1554424042)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599408 SCV000709863 likely pathogenic not provided 2018-01-23 criteria provided, single submitter clinical testing The c.3106_3112dupGGCGACG likely pathogenic variant in the KCNH2 gene has previously been reported in an individual referred for LQTS genetic testing (Tester et al., 2005). This variant causes a shift in reading frame starting at codon valine 1038, changing it to a glycine, and creating a premature stop codon at position 83 of the new reading frame, denoted p.Val1038GlyfsX83. This likely pathogenic variant is expected to result in an abnormal, truncated protein product in which the last 122 amino acid residues of the protein are replaced with 82 aberrant residues. Other frameshift variants in the KCNH2 gene resulting in protein truncation have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), supporting the pathogenicity of protein truncation as a mechanism of disease for this gene. Furthermore, the c.3106_3112dupGGCGACG variant has not been observed in large population cohorts (Lek et al., 2016).

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