ClinVar Miner

Submissions for variant NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) (rs587780586)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624041 SCV000741176 pathogenic Inborn genetic diseases 2015-10-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Baylor Miraca Genetics Laboratories, RCV000122729 SCV000807276 uncertain significance Early infantile epileptic encephalopathy 13 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old female with intellectual disability, intractable cryptogenic localization-related epilepsy, marked hypotonia, cortical blindness, microcephaly
GeneDx RCV000189267 SCV000242899 pathogenic not provided 2018-11-12 criteria provided, single submitter clinical testing The R850Q variant in the SCN8A gene has been reported as a de novo variant in patients with developmental delay or intellectual disability and epilepsy (Lee et al., 2014; Kong et al., 2015). Additionally, this variant has been identified multiple times as a de novo variant in patients with epilepsy who were tested at GeneDx. The R850Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R850Q variant is a semi-conservative amino acid substitution that occurs at a conserved position predicted to be within the voltage-sensor transmembrane segment S4 in the second homologous domain of the SCN8A protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R850Q as a pathogenic variant.
GeneReviews RCV000122729 SCV000298193 pathogenic Early infantile epileptic encephalopathy 13 2016-02-19 no assertion criteria provided literature only
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000189267 SCV000778212 pathogenic not provided 2016-08-17 no assertion criteria provided clinical testing
Mendelics RCV000122729 SCV000165986 likely pathogenic Early infantile epileptic encephalopathy 13 2013-02-01 no assertion criteria provided clinical testing
SIB Swiss Institute of Bioinformatics RCV000122729 SCV000803615 uncertain significance Early infantile epileptic encephalopathy 13 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Epileptic encephalopathy, early infantile, 13, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
UCLA Clinical Genomics Center, UCLA RCV000122729 SCV000255461 likely pathogenic Early infantile epileptic encephalopathy 13 2013-02-05 criteria provided, single submitter clinical testing

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