ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1132dup (p.Leu378fs) (rs794728432)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181970 SCV000234273 likely pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing Although the c.1132dupC variant in the KCNH2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Leucine 378, changing it to a Proline, and creating a premature stop codon at position 10 of the new reading frame, denoted p.Leu378ProfsX10. 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 HGMD in association with LQTS (Stenson P et al., 2009).

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