ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg) (rs766755499)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187927 SCV000241529 likely pathogenic not provided 2013-08-08 criteria provided, single submitter clinical testing The Gln646Arg missense change in the KCNQ2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of an uncharged Glutamine residue with a positively charged Arginine residue. It alters a position in the C-terminal region of the protein that is conserved across species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. The identification of Gln646Arg in this unaffected parent provides evidence that this variant may be benign; however, the possibility that it is a disease-causing mutation cannot be excluded since some individuals with KCNQ2 mutations may never develop seizures due to incomplete penetrance (Bellini et al., 2011; Soldovieri et al., 2007). The variant is found in EPILEPSY panel(s).

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