ClinVar Miner

Submissions for variant NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)

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
Ambry Genetics RCV004259952 SCV003880640 uncertain significance not specified 2023-02-14 criteria provided, single submitter clinical testing The c.1564G>A (p.E522K) alteration is located in exon 5 (coding exon 5) of the TACC1 gene. This alteration results from a G to A substitution at nucleotide position 1564, causing the glutamic acid (E) at amino acid position 522 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223445 SCV003919086 uncertain significance Seizure 2023-04-20 criteria provided, single submitter research

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.