ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) (rs121918799)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723551 SCV000111456 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000188915 SCV000242545 likely benign not specified 2017-09-07 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.
Genetic Services Laboratory,University of Chicago RCV000188915 SCV000248793 uncertain significance not specified 2014-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296106 SCV000417785 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000059493 SCV000417786 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415355 SCV000492946 uncertain significance Seizures; Generalized tonic-clonic seizures; Absence seizures 2014-11-13 criteria provided, single submitter clinical testing
Invitae RCV001082811 SCV000633848 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718099 SCV000848961 likely benign History of neurodevelopmental disorder 2018-07-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Mendelics RCV000986890 SCV001136040 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001129578 SCV001289115 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198515 SCV001369478 uncertain significance Seizures; Febrile seizures; Myoclonus; Generalized tonic-clonic seizures; Absence seizures 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in heterozygous state. This variant arose de novo in at least one reported proband.
Institute of Human Genetics, University of Leipzig Medical Center RCV001129578 SCV001428982 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2017-07-04 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059493 SCV000091019 not provided Familial hemiplegic migraine type 3 no assertion provided not provided
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655982 SCV000588258 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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