Submissions for variant NM_172107.4(KCNQ2):c.754T>C (p.Leu252=)

gnomAD frequency: 0.00011  dbSNP: rs370174915

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126452	SCV000169959	benign	not specified	2013-07-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469643	SCV000555709	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312894	SCV000848169	likely benign	Inborn genetic diseases	2016-11-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004544263	SCV004784151	likely benign	KCNQ2-related disorder	2019-10-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).