ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.106del (p.Val36fs) (rs794728507)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182067 SCV000234370 pathogenic Cardiac arrhythmia 2011-10-20 criteria provided, single submitter clinical testing The c.106delG mutation in the KCNH2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Valine 36, changing it to a Tryptophan, and creates a premature stop codon at position 24 of the new reading frame, denoted p.Val36TrpfsX24. This mutation is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. Other frameshift mutations have been reported previously in association with LQTS. The variant is found in LQT panel(s).

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