Submissions for variant NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)

gnomAD frequency: 0.00070  dbSNP: rs121917910

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000188828	SCV000152607	likely benign	not specified	2019-07-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118242	SCV000203498	uncertain significance	not provided	2014-04-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000118242	SCV000242457	benign	not provided	2019-06-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20729507, 18930999, 19522081, 28717674, 27881154, 26990884, 31765958, 32090326)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080063	SCV000758058	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313742	SCV000848497	likely benign	Inborn genetic diseases	2018-08-14	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	RCV000118242	SCV000892303	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SCN1A: PP3, BS1, BS2
Mendelics	RCV000059407	SCV001136032	benign	Severe myoclonic epilepsy in infancy	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001133131	SCV001292818	uncertain significance	Migraine, familial hemiplegic, 3	2017-04-27	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001133132	SCV001292819	uncertain significance	Generalized epilepsy with febrile seizures plus, type 2	2017-04-27	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000188828	SCV002600854	likely benign	not specified	2022-10-31	criteria provided, single submitter	clinical testing
UniProtKB/Swiss-Prot	RCV000059407	SCV000090931	not provided	Severe myoclonic epilepsy in infancy		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118242	SCV001741044	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118242	SCV001930148	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118242	SCV001971479	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542732	SCV004778160	likely benign	SCN1A-related disorder	2019-12-19	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).