ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1815del (p.Ser606fs) (rs794728499)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182058 SCV000234361 pathogenic Cardiac arrhythmia 2012-01-24 criteria provided, single submitter clinical testing The c.1815delC mutation in the KCNH2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Serine 606, changing it to a Proline, and creates a premature stop codon at position 7 of the new reading frame, denoted p.S606PfsX7. This mutation is expected to result in an abnormal, truncated protein from this alleles due to mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. The variant is found in LQT panel(s).

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