ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1896_1897dup (p.Leu633fs) (rs794728463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182002 SCV000234305 pathogenic not provided 2014-01-30 criteria provided, single submitter clinical testing The c.2916_2917dupCC pathogenic variant in the KCNH2 gene has been reported in one individual tested for LQTS, and was absent from greater than 2,600 reference alleles (Kapplinger et al., 2009). This variant causes a shift in reading frame starting at codon Leucine973, changing it to a Proline, and creating a premature stop codon at position two of the new reading frame, denoted p.Leu973ProfsX2. This variant 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 variants in the KCNH2 gene have been reported in association with LQTS.

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