ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) (rs1057516085)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697424 SCV000826032 pathogenic Early infantile epileptic encephalopathy 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 201 of the KCNQ2 protein (p.Arg201His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in several individuals affected with early infantile epileptic encephalopathy (PMID: 23708187, 25880994, 29190809, 28139826). ClinVar contains an entry for this variant (Variation ID: 369753). Experimental studies have shown that this missense change results in a protein that has a significant increase in current density and loss of voltage-dependent gating (PMID: 25740509) The p.Arg201 amino acid residue in KCNQ2 has been determined to be clinically significant (PMID: 28139826, 27535030, 28867141). This suggests that variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678129 SCV000484566 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only EE (epileptic encephalopathy)
Laboratory of Molecular Genetics,CHU RENNES RCV000415385 SCV000493074 likely pathogenic Severe intellectual deficiency no assertion criteria provided clinical testing

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