ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Bio-Medicine,Mongolian National University of Medical Sciences RCV001171508 SCV001192832 likely pathogenic Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2018-03-01 no assertion criteria provided clinical testing The Arg162Cys variant in the BICD2 gene was detected in a boy with proximal dystrophy in Tibialis anterior muscle and abductor Hallicus muscle. While walking, he showed a waddling gait and Gowers' sign.

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.