ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) (rs35735053)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079592 SCV000111474 benign not specified 2013-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079592 SCV000152609 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000079592 SCV000171481 benign not specified 2013-06-26 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224940 SCV000281556 likely benign not provided 2015-09-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000079592 SCV000307040 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344701 SCV000417763 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395905 SCV000417764 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.
Invitae RCV001082156 SCV000559705 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716161 SCV000846998 benign History of neurodevelopmental disorder 2016-04-26 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
Illumina Clinical Services Laboratory,Illumina RCV001133025 SCV001292711 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.

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