ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2079del (p.Arg695fs) (rs1057517743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414670 SCV000490554 pathogenic not provided 2016-09-02 criteria provided, single submitter clinical testing The c.3099delG pathogenic variant in the KCNH2 gene has been reported in association with LQTS (Napolitano et al., 2005; Kapplinger et al., 2009). This variant causes a shift in reading frame starting at codon Arginine 1035, changing it to a Glycine, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Arg1035GlyfsX22. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson et al., 2014). Finally, although data from control individuals of European and African American ancestry in the NHLBI Exome Sequencing Project is not available for this variant, c.3099delG was not observed in approximately 16,800 alleles from individuals of various ethnic backgrounds in the Exome Aggregation Consortium (ExAC).

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