ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.72C>T (p.Ile24=)

gnomAD frequency: 0.00001  dbSNP: rs727503412
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151809 SCV000200275 likely benign not specified 2014-01-22 criteria provided, single submitter clinical testing Ile24Ile in exon 2 of SCN5A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ile24Ile in exon 2 of SCN5A (allele frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV001842477 SCV001341827 likely benign Cardiac arrhythmia 2019-09-09 criteria provided, single submitter clinical testing
Invitae RCV001441641 SCV001644572 likely benign Brugada syndrome 2020-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298159 SCV004007598 likely benign Cardiovascular phenotype 2023-05-23 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.