ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2180dup (p.Gln728fs) (rs1057518089)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414739 SCV000491485 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing Although the c.3200dupT variant in the KCNH2 gene has not been reported as a pathogenic variantor as a benign variant to our knowledge, this variant causes a shift in reading frame starting at codonGlutamine 1068, changing it to a Threonine, and creating a premature stop codon at position 51 ofthe new reading frame, denoted p.Gln1068ThrfsX51. c.3200dupT is expected to result in an abnormal,truncated protein product as the last 92 amino acids are replaced with 50 different amino acids.Multiple other frameshift variants in the KCNH2 gene have been reported in HGMD in associationwith Long QT syndrome, including several that introduce the same premature termination codon asc.3200dupT (Stenson et al., 2014). Furthermore, the c.3200dupT variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.In summary, c.3200dupT in the KCNH2 gene is interpreted as a pathogenic variant.

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