Submissions for variant NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)

gnomAD frequency: 0.00031  dbSNP: rs150821246

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000858271	SCV000241597	benign	not provided	2021-06-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18625963)
Illumina Laboratory Services, Illumina	RCV000407786	SCV000471893	likely benign	Seizures, benign familial neonatal, 2	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000285383	SCV000471894	likely benign	Benign neonatal seizures	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000285383	SCV000543213	likely benign	Benign neonatal seizures	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000858271	SCV000613882	likely benign	not provided	2018-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317115	SCV000851648	likely benign	Inborn genetic diseases	2019-06-06	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	RCV000858271	SCV004163228	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	KCNQ3: BS2
PreventionGenetics, part of Exact Sciences	RCV003977498	SCV004793192	likely benign	KCNQ3-related disorder	2020-06-01	criteria provided, single submitter	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).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656017	SCV000588293	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000858271	SCV001741636	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000858271	SCV001928998	likely benign	not provided		no assertion criteria provided	clinical testing
GeneReviews	RCV000407786	SCV002061345	not provided	Seizures, benign familial neonatal, 2		no assertion provided	literature only	Variant occurred in 2 sibs: 1 with rolandic epilepsy (no neonatal seizures), 1 with EEG features (CTS) but no seizures. Also occurred in the unaffected mother and was absent in a sib with rolandic epilepsy; is present in 0.07% of Europeans, incl 1 homozygous individual (ExAC)