ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) (rs775681117)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495943 SCV000579474 pathogenic Fukuyama congenital muscular dystrophy no assertion criteria provided clinical testing The observed variant is not reported in 1000 genomes and is likely to be pathogenic by SIFT and FATHMM. The individual's first child expired at 5 years of age and manifested motor and cognitive delay, development of joint contractures and mild sensorineural hearing loss, suggestive of congenital myopathy.

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.