ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1142del (p.Gly381fs) (rs794728497)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182056 SCV000234359 pathogenic Cardiac arrhythmia 2011-08-16 criteria provided, single submitter clinical testing The c.1142delG mutation in the KCNH2 gene causes a shift in reading frame at codon Glycine 381, changing it to an Alanine, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Gly381AlafsX53. Although this mutation has not been reported previously to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay, and therefore is interpreted to be a disease-causing mutation. The variant is found in LQT panel(s).

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