ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) (rs121918817)

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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 RCV000118239 SCV000152599 uncertain significance not specified 2014-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118239 SCV000203514 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000118239 SCV000242442 benign not specified 2017-02-02 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.
Invitae RCV000475058 SCV000559699 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718610 SCV000849474 likely benign History of neurodevelopmental disorder 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789040 SCV000928381 likely pathogenic Severe myoclonic epilepsy in infancy 2018-09-04 criteria provided, single submitter clinical testing PM5, PM6, PP2, PP3, PP4, PP5
UniProtKB/Swiss-Prot RCV000059464 SCV000090989 unknown significance Autistic disorder of childhood onset no assertion criteria provided not provided Converted during submission to Uncertain significance.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655983 SCV000588259 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GenomeConnect, ClinGen RCV000578859 SCV000681394 not provided Severe myoclonic epilepsy in infancy; Seizure disorder no assertion provided phenotyping only 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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