Submissions for variant NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)

gnomAD frequency: 0.00087  dbSNP: rs121918769

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079561	SCV000111443	benign	not specified	2013-01-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000079561	SCV000242443	benign	not specified	2017-09-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001087094	SCV000252755	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355074	SCV000417815	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000259883	SCV000417816	likely benign	Epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434909	SCV000511198	likely benign	not provided	2017-02-03	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
SIB Swiss Institute of Bioinformatics	RCV000059465	SCV000803506	benign	Severe myoclonic epilepsy in infancy	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Epileptic encephalopathy, early infantile, 6, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age (PMID:18930999). BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:19589774).
Ambry Genetics	RCV002311541	SCV000847284	benign	Inborn genetic diseases	2016-07-24	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Mendelics	RCV000059465	SCV001136054	likely benign	Severe myoclonic epilepsy in infancy	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000434909	SCV001145449	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001132420	SCV001292080	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000434909	SCV003916156	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SCN1A: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003894914	SCV004724154	benign	SCN1A-related condition	2022-08-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
UniProtKB/Swiss-Prot	RCV000059465	SCV000090990	not provided	Severe myoclonic epilepsy in infancy		no assertion provided	not provided