ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2450dup (p.Ser819fs) (rs794728474)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182014 SCV000234317 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing The c.3470dupC variant in the KCNH2 gene has been previously reported in association with LQTS and was absent from approximately 2600 control alleles (Kapplinger J et al., 2009). This variant causes a shift in reading frame starting at the final codon, changing Serine 1159 to a Glutamine, and creating an abnormal elongated protein with 110 spurious amino acids followed by a stop codon at position 111 of the new reading frame (denoted p.Ser1159GlnfsX111). Other frameshift variants in the terminal exon of the KCNH2 gene have been reported in association with LQTS. The variant is found in HERG panel(s).

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