ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.255C>G (p.Arg85=)

gnomAD frequency: 0.00001  dbSNP: rs1060501166
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464789 SCV000545174 uncertain significance Brugada syndrome 5 2016-08-22 criteria provided, single submitter clinical testing In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. This sequence change affects codon 85 of the SCN1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1B protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SCN1B-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies.
Ambry Genetics RCV002318523 SCV000851522 likely benign Cardiovascular phenotype 2017-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.