ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1867_1868delinsA (p.Pro623fs) (rs1064795287)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481746 SCV000570955 likely pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing A novel frameshift variant that is likely pathogenic was identified in the KCNH2 gene. Although thec.2887_2888delCCinsA variant has not been reported to our knowledge, this variant causes a shift inreading frame starting at codon Proline 963, changing it to a Threonine, and creating a prematurestop codon at position 11 of the new reading frame, denoted p.Pro963ThrfsX11. This likelypathogenic variant is expected to result in either an abnormal, truncated protein product or loss ofprotein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in theKCNH2 gene have been reported in HGMD in association with Long QT syndrome (Stenson et al.,2014). Furthermore, the c.2887_2888delCCinsA variant was not observed in approximately 6,300individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,(average read depth 7X).In summary, c.2887_2888delCCinsA in the KCNH2 gene is expected to be pathogenic, as loss offunction variants in this gene are strongly associated with this phenotype.

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