ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) (rs794728426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181964 SCV000234267 pathogenic Cardiac arrhythmia 2014-04-15 criteria provided, single submitter clinical testing p.Thr270LysfsX91 (T270KfsX91) : c.809_812delinsAAAAGC in exon 4 of the HERG gene (NM_000238.2). The normal sequence with the bases that are deleted in braces and the bases that are inserted in brackets is: CGGA{CGCG}[AAAAGC]CTCC. Although the c.809_812delinsAAAAGC mutation in the KCNH2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Threonine 270, changing it to a Lysine, and creating a premature stop codon at position 91 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. Also, c.809_812delinsAAAAGC in the KCNH2 gene has been been seen in other unrelated individuals at GeneDX. The variant is found in HERG panel(s).

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