ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2079_2089dup (p.Asp697fs) (rs794728466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475107 SCV000543478 pathogenic Long QT syndrome 2016-05-15 criteria provided, single submitter clinical testing This sequence change inserts 11 nucleotides in exon 13 of the KCNH2 mRNA (c.3099_3109dup11), causing a frameshift at codon 1037. This creates a premature translational stop signal (p.Asp1037Glyfs*24) 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: 19862833). For these reasons, this variant has been classified as Pathogenic.

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