ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) (rs121918769)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355074 SCV000417815 likely benign Familial hemiplegic migraine type 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 Clinical Services Laboratory,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 RCV000716443 SCV000847284 benign History of neurodevelopmental disorder 2016-07-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
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 Clinical Services Laboratory,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.
UniProtKB/Swiss-Prot RCV000059465 SCV000090990 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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