Submissions for variant NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)

gnomAD frequency: 0.00162  dbSNP: rs151272083

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000209930	SCV000265545	likely benign	Developmental and epileptic encephalopathy, 14	2018-04-16	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080368	SCV000290486	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000355238	SCV000340896	likely benign	not specified	2016-04-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000712126	SCV000513388	benign	not provided	2020-02-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26105150, 28554332)
Athena Diagnostics	RCV000712126	SCV000842547	benign	not provided	2014-06-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315641	SCV000848621	likely benign	Inborn genetic diseases	2018-08-07	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.
Mendelics	RCV000209930	SCV001137958	likely benign	Developmental and epileptic encephalopathy, 14	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712126	SCV001155848	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KCNT1: BS1
Genome-Nilou Lab	RCV000209930	SCV002555516	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270025	SCV002555517	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001080368	SCV003920109	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-03-30	criteria provided, single submitter	clinical testing	KCNT1 NM_020822 exon 23 p.Arg910Gln (c.2729G>A): This variant has not been reported in the literature but is present in 109/125624 European individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs151272083). This variant is present in ClinVar (Variation ID:224109). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000712126	SCV001740631	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712126	SCV001927586	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712126	SCV001980335	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927889	SCV004746494	likely benign	KCNT1-related disorder	2020-01-31	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).