ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) (rs147522594)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000189158 SCV000152616 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724214 SCV000228378 uncertain significance not provided 2014-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000189158 SCV000242790 likely benign not specified 2017-03-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000340147 SCV000417451 likely benign Benign familial neonatal-infantile seizures 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.
Invitae RCV001085807 SCV000562135 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717447 SCV000848298 likely benign History of neurodevelopmental disorder 2016-11-18 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Mendelics RCV000340147 SCV001136003 uncertain significance Benign familial neonatal-infantile seizures 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV001200927 SCV001371864 pathogenic Episodic ataxia type 9 2020-07-08 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001085807 SCV001423343 not provided Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05-24-2016 by Lab or GTR ID 506900. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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