ClinVar Miner

Submissions for variant NM_012282.4(KCNE5):c.346G>A (p.Ala116Thr)

gnomAD frequency: 0.00047  dbSNP: rs764993726
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
Invitae RCV000638658 SCV000760196 likely benign Brugada syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001779031 SCV002015812 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003338702 SCV004058097 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.346G>A (p.A116T) alteration is located in exon 1 (coding exon 1) of the KCNE5 gene. This alteration results from a G to A substitution at nucleotide position 346, causing the alanine (A) at amino acid position 116 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.