ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.853_859del (p.Ala285fs) (rs794728428)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181966 SCV000234269 pathogenic Cardiac arrhythmia 2013-12-01 criteria provided, single submitter clinical testing The c.853_859delGCCGACG mutation in the KCNH2 gene has not been reported previously to our knowledge, this mutation causes a shift in reading frame starting at codon Alanine 285, changing it to a Threonine, and creating a premature stop codon at position 73 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. 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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