Submissions for variant NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)

dbSNP: rs864321712

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000820061	SCV000960755	pathogenic	Early infantile epileptic encephalopathy with suppression bursts	2022-10-20	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. ClinVar contains an entry for this variant (Variation ID: 219241). This missense change has been observed in individual(s) with benign familial neonatal seizures and clinical features of neonatal epileptic encephalopathy (PMID: 27535030; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 107 of the KCNQ2 protein (p.Leu107Phe).
NeuroMeGen, Hospital Clinico Santiago de Compostela	RCV000203587	SCV000258978	pathogenic	Seizures, benign familial neonatal, 1		no assertion criteria provided	clinical testing