ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs201905405
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Total submissions: 9
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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)
Eurofins Ntd Llc (ga) RCV000488340 SCV000341238 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488340 SCV000575245 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing SCN1A: PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000692247 SCV000820060 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-07-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136462 SCV001296300 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 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 RCV000488340 SCV001475473 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345677 SCV002650327 likely benign Inborn genetic diseases 2020-03-25 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.
Institute of Human Genetics, University Hospital Muenster RCV003128398 SCV003804914 uncertain significance See cases 2022-12-05 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,BP1

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