ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) (rs1555850842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479554 SCV000566280 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing The c.2126dupC duplication in the KCNQ2 gene causes a frameshift starting with codon Valine 710, changesthis amino acid to a Cysteine residue and creates a premature Stop codon at position 155 of the new readingframe, denoted p.Val710CysfsX155. Thisvariant is predicted to cause loss of normal protein functionthrough protein truncation, as the last 163 amino acids of the KCNQ2 protein are lost and replaced with 154incorrect amino acids. Although this duplication has not been previously reported to our knowledge, othertruncating variants in the KCNQ2 gene have been reported in association with KCNQ2-related disorders(Stenson et al., 2014). Therefore, we interpret this variant as pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003633 SCV001162060 likely pathogenic Epileptic encephalopathy no assertion criteria provided research

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