ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.859G>T (p.Ala287Ser)

gnomAD frequency: 0.00066  dbSNP: rs149582940
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000897251 SCV001041387 likely benign Atrial fibrillation, familial, 7 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028471 SCV004888968 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.859G>T (p.A287S) alteration is located in exon 1 (coding exon 1) of the KCNA5 gene. This alteration results from a G to T substitution at nucleotide position 859, causing the alanine (A) at amino acid position 287 to be replaced by a serine (S). 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.