ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2115del (p.Trp705fs) (rs794728443)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181981 SCV000234284 pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing Although the c.2115delG variant in the KCNH2 gene has not been reported to our knowledge, this pathogenic variant causes a shift in reading frame starting at codon Tryptophan 705, changing it to a Cysteine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Trp705CysfsX9. 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 mutations in the KCNH2 gene have been reported in association with LQTS (Stenson P et al., 2009).

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