ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) (rs201905405)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488340 SCV000242644 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32090326, 23884151, 26501104, 21248271, 27231140, 21719429)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000488340 SCV000341238 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488340 SCV000575245 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000692247 SCV000820060 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1880 of the SCN1A protein (p.Gly1880Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs201905405, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individuals affected with Dravet syndrome (PMID: 21248271). ClinVar contains an entry for this variant (Variation ID: 206875). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001136462 SCV001296300 uncertain significance 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 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 Clinical Services Laboratory,Illumina RCV001136463 SCV001296301 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.
Athena Diagnostics Inc RCV000488340 SCV001475473 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.