ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.734T>C (p.Leu245Pro)

dbSNP: rs2145736248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388161 SCV001589032 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ2 protein function. This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 245 of the KCNQ2 protein (p.Leu245Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.

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