ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2076_2079dup (p.Pro694fs) (rs794728467)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182007 SCV000234310 pathogenic Cardiac arrhythmia 2012-03-01 criteria provided, single submitter clinical testing The c.3096_3099dupGCGG mutation in the KCNH2 gene has been reported previously in association with LQTS. This mutation causes a shift in reading frame starting at codon Proline 1034, changing it to an Alanine, and creates a premature stop codon at position 86 of the new reading frame. 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 LQT panel(s).

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