ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1932dup (p.Asn645fs) (rs1554424254)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480019 SCV000566157 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing Although the c.2952dupC variant in the KCNH2 gene has not been reported to our knowledge, this duplication causes a shift in reading frame starting at codon Asparagine 985, changing it to a Glutamine, and creating a premature stop codon at position 134 of the new reading frame, denoted p.Asn985GlnfsX134. This variant is expected to result in an abnormal, truncated protein product. Other frameshift variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson P et al., 2014). In summary, c.2952dupC in the KCNH2 gene is interpreted as a pathogenic variant.

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