Submissions for variant NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)

gnomAD frequency: 0.00027  dbSNP: rs201458257

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118284	SCV000152656	uncertain significance	not provided	2014-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000118284	SCV000242936	likely benign	not provided	2021-03-19	criteria provided, single submitter	clinical testing	The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32090326, 26220391, 33083721)
Invitae	RCV001086391	SCV000557009	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000118284	SCV000608647	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SCN8A: PP2, BS2
Ambry Genetics	RCV002313921	SCV000847647	likely benign	Inborn genetic diseases	2019-02-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneReviews	RCV000239732	SCV000298181	not provided	Developmental and epileptic encephalopathy, 13		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118284	SCV001744314	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118284	SCV001931321	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118284	SCV001954974	likely benign	not provided		no assertion criteria provided	clinical testing