Submissions for variant NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=)

gnomAD frequency: 0.00002  dbSNP: rs753417293

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000636449	SCV000757888	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-11-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315957	SCV000849354	likely benign	Inborn genetic diseases	2017-04-14	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	RCV004721510	SCV005329707	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KCNQ2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004544837	SCV004758909	likely benign	KCNQ2-related disorder	2019-03-22	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).