ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.599T>C (p.Leu200Pro) (rs796052622)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187857 SCV000241457 likely pathogenic not provided 2013-07-23 criteria provided, single submitter clinical testing p.Leu200Pro (CTG>CCG): c.599 T>C in exon 4 of the KCNQ2 gene (NM_172107.2)The Leu200Pro missense change 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. Although both Leucine and Proline are uncharged, non-polar amino acid residues, the gain of a Proline may affect the secondary structure of the KCNQ2 protein. Leu200Pro alters a highly conserved position in the S4 voltage-sensor segment of the protein and other missense mutations in this region of the protein have been reported in association with epilepsy. In addition, multiple in-silico algorithms predict Leu200Pro may be damaging to the structure/function of the protein. Therefore, based on the currently available information, Leu200Pro is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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