ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)

gnomAD frequency: 0.00154  dbSNP: rs121918817
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118239 SCV000152599 likely benign not specified 2018-10-15 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) 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 Early infantile epileptic encephalopathy with suppression bursts 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718610 SCV000849474 benign History of neurodevelopmental disorder 2019-04-03 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;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
Illumina Laboratory Services,Illumina RCV001133335 SCV001293031 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mendelics RCV000118239 SCV002519999 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059464 SCV000090989 unknown significance Autism no assertion criteria provided not provided Converted during submission to Uncertain significance.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655983 SCV000588259 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15
GenomeConnect, ClinGen RCV000578859 SCV000681394 not provided Severe myoclonic epilepsy in infancy; Epilepsy 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252611 SCV001428370 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705717 SCV001928110 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118239 SCV001968061 benign not specified no assertion criteria provided clinical testing

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