ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2086_2087dup (p.Asp697fs) (rs794728469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412915 SCV000490913 likely pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing Although the c.3106_3107dupGG likely pathogenic variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Aspartic acid 1037, changing it to an Alanine, and creating a premature stop codon at position 21 of the new reading frame, denoted p.Asp1037AlafsX21. This likely pathogenic variant occurring within a run of Guanine bases is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Frameshift variants located within this run of Guanine bases (c.3107dupG, c.3107delG, c.3106_3109dupGGCG) and elsewhere in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson et al., 2014). Lastly, the c.3106_3107dupGG variant was not observed in approximately 5600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 4X). In summary, c.3106_3107dupGG in the KCNH2 gene is expected to be pathogenic, however the possibility it may be a rare benign variant cannot be excluded.

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