ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.449-3C>A (rs370937269)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518529 SCV000615052 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000697998 SCV000826636 uncertain significance Brugada syndrome 5 2018-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the SCN1B gene. It does not directly change the encoded amino acid sequence of the SCN1B protein. The SCN1B gene has multiple clinically relevant isoforms. The c.449-3C>A variant occurs in alternate transcript NM_001037.4, which corresponds to position c.*5016C>A in NM_199037.3, the primary transcript listed in the Methods. This variant is present in population databases (rs370937269, ExAC 0.007%). This variant has not been reported in the literature in individuals with SCN1B-related disease. ClinVar contains an entry for this variant (Variation ID: 448260). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311511 SCV001501706 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001311511 SCV001764021 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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.