ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1201_1204dup (p.His402fs) (rs794728434)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181972 SCV000234275 pathogenic Cardiac arrhythmia 2014-08-29 criteria provided, single submitter clinical testing The c.1201_1204dupCTGC mutation in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This mutation causes a shift in reading frame starting at codon Histidine 402, changing it to a Proline, and creating a premature stop codon at position 118 of the new reading frame, denoted p.His402ProfsX118. This mutation 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. The variant is found in HERG panel(s).

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