Submissions for variant NM_172107.4(KCNQ2):c.2385C>T (p.His795=)

gnomAD frequency: 0.00015  dbSNP: rs143016981

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126473	SCV000169980	benign	not specified	2014-06-03	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	RCV000557165	SCV000634068	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453452	SCV002738391	likely benign	Inborn genetic diseases	2017-08-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV003430694	SCV004150904	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	KCNQ2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004544264	SCV004759687	likely benign	KCNQ2-related disorder	2019-03-15	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).