ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.100del (p.Ala34fs) (rs794728506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182066 SCV000234369 pathogenic Cardiac arrhythmia 2011-10-16 criteria provided, single submitter clinical testing The c.100delG mutation in the KCNH2 gene has been reported previously in association with LQTS, and this mutation was absent from 2,600 control alleles. The c.100delG mutation causes a shift in reading frame starting at codon Alanine 34, changing it to a Leucine, and creates a premature stop codon at position 26 of the new reading frame, denoted p.Ala34LeufsX26. This mutation is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. The variant is found in LQT panel(s).

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