ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1946-2_1947dup (rs794728464)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182003 SCV000234306 pathogenic Cardiac arrhythmia 2013-06-20 criteria provided, single submitter clinical testing The c.2966-2_2967dupAGGC mutation in the KCNH2 gene causes a shift in reading frame starting at codon Alanine 990, changing it to an Arginine, and creating a premature stop codon at position 130 of the new reading frame. This mutation is expected to result either in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. While this duplication includes nucleotides at the splice acceptor site of exon 13, this mutation is not predicted to result in abnormal gene splicing. 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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