ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1049A>T (p.Asn350Ile)

dbSNP: rs772800738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187894 SCV000241496 likely pathogenic not provided 2014-03-05 criteria provided, single submitter clinical testing p.Asn350Ile (AAC>ATC): c.1049 A>T in exon 8 of the KCNQ2 gene (NM_172107.2) A N350I variant that is likely pathogenic has been identified in the KCNQ2 gene. The N350I 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 N350I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position in the cytoplasmic topological domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (R353G, T359K) have been reported in association with benign neonatal epilepsy, 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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