ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4810+4G>A

dbSNP: rs1011460663
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766992 SCV000637161 uncertain significance not provided 2024-12-23 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the SCN5A gene. It does not directly change the encoded amino acid sequence of the SCN5A protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 463341). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001841474 SCV001341541 likely benign Cardiac arrhythmia 2019-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841474 SCV004832942 likely benign Cardiac arrhythmia 2023-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023907 SCV005031276 uncertain significance Cardiovascular phenotype 2023-10-26 criteria provided, single submitter clinical testing The c.4813+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 26 in the SCN5A gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000539841 SCV001571585 uncertain significance Brugada syndrome 2021-02-18 no assertion criteria provided clinical testing

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.