ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1757del (p.Pro586fs) (rs794728456)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181994 SCV000234297 pathogenic Cardiac arrhythmia 2012-09-27 criteria provided, single submitter clinical testing c.2777delC:p.Pro926ArgfsX48 (P926RfsX48) in exon 12 of the KCNH2 gene (NM_000238.2). The normal sequence with the base that is deleted in braces is: GGGC{C}GTGG.Although the c.2777delC mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Proline 926, changing it to an Arginine, and creating a premature stop codon at position 48 of the new reading frame, denoted p.Pro926ArgfsX48. 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. In summary, c.2777delC in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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