ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)

gnomAD frequency: 0.00001  dbSNP: rs1218269439
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039658 SCV001203197 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-05-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN8A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 713 of the SCN8A protein (p.Glu713Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
CeGaT Center for Human Genetics Tuebingen RCV001091245 SCV001247156 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224518 SCV003920455 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2021-03-30 criteria provided, single submitter clinical testing SCN8A NM_014191.3 exon 14 p.Glu713Asp (c.2139A>C): This variant has not been reported in the literature but is present in 1/111010 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.