ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2059dup (p.Leu687fs) (rs794728465)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182005 SCV000234308 pathogenic Cardiac arrhythmia 2014-06-01 criteria provided, single submitter clinical testing c.3079dupC: p.Leu1027ProfsX92 (L1027PfsX92) in exon 13 of the KCNH2 gene (NM_000238.2). The normal sequence with the base that is inserted in braces is: CCCC{C}TCTC. Although the c.3079dupC mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Leucine 1027, changing it to a Proline, and creating a premature stop codon at position 92 of the new reading frame, denoted p.Leu1027ProfsX92. This mutation is expected to result in an abnormal, truncated protein product. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.3079dupC in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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