ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn) (rs796052632)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187874 SCV000241474 likely pathogenic not provided 2015-09-27 criteria provided, single submitter clinical testing p.Tyr264Asn (TAC>AAC): c.790 T>A in exon 5 of the KCNQ2 gene (NM_172107.2) A Y264N variant that is likely pathogenic has been identified in the KCNQ2 gene. The Y264N variant 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 Y264N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position between transmembrane domains 5 and 6 that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in an adjacent residue (A265P, A265V, A265T) have been reported in association with infantile and early onset epileptic encephalopathy, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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