Submissions for variant NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)

gnomAD frequency: 0.00506  dbSNP: rs139587368

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117345	SCV000169978	benign	not specified	2013-01-31	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.
Eurofins Ntd Llc (ga)	RCV000117345	SCV000226699	benign	not specified	2014-09-08	criteria provided, single submitter	clinical testing
Invitae	RCV000472382	SCV000555721	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312148	SCV000846653	benign	Inborn genetic diseases	2016-05-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago	RCV000117345	SCV000151527	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.