ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2085_2092dup (p.Val698fs) (rs794728470)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182010 SCV000234313 pathogenic Cardiac arrhythmia 2012-10-19 criteria provided, single submitter clinical testing c.3105_3112dupGGGCGACG: p.Val1038GlyfsX22 (V1038GfsX22) in exon 13 of the KCNH2 (aka HERG) gene (NM_000238.2). The normal sequence with the bases that are inserted in braces is: GACG{GGGCGACG}TGGA.Although the c.3105_3112dupGGGCGACG mutation in the KCNH2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Valine 1038, changing it to a Glycine, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Val1038GlyfsX22. This mutation is expected to result in an abnormal, truncated protein product. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.3105_3112dupGGGCGACG in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Invitae RCV000231614 SCV000283981 pathogenic Long QT syndrome 2016-02-18 criteria provided, single submitter clinical testing This sequence change inserts 8 nucleotide in exon 13 of the KCNH2 mRNA (c.3105_3112dupGGGCGACG), causing a frameshift at codon 1038. This creates a premature translational stop signal (p.Val1038Glyfs*22) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in KCNH2 are known to be pathogenic (PMID: 10973849, 17576861). For these reasons, this variant has been classified as Pathogenic.

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