ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) (rs796052618)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187853 SCV000241453 likely pathogenic not provided 2013-12-13 criteria provided, single submitter clinical testing p.Arg144Gln (CGG>CAG): c.431 G>A in exon 3 of the KCNQ2 gene (NM_172107.2)The Arg144Gln 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. The Arg144Gln variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The variant alters a conserved position in the cytoplasmic domain just outside of the second transmembrane domain, and other missense mutations associated with epilepsy have been reported in this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether Arg144Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000408747 SCV000598136 pathogenic Early infantile epileptic encephalopathy 7 2016-06-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000187853 SCV001249243 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000408747 SCV001426583 pathogenic Early infantile epileptic encephalopathy 7 criteria provided, single submitter clinical testing
GeneReviews RCV000408747 SCV000484553 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only Infantile spasms
Diagnostic Laboratory, Strasbourg University Hospital RCV001089802 SCV001244216 likely pathogenic Intellectual disability 2016-12-01 no assertion criteria provided clinical testing

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