ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.708+294_1044+1540del

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
New York Genome Center RCV001291711 SCV001480296 pathogenic Autosomal recessive spinocerebellar ataxia 17 2019-09-27 criteria provided, single submitter clinical testing The c.708+294_1044+1540del, a novel copy number deletion variant encompassing exons 8, 9,and 10 of the CWF19L1 gene is predicted to result in an in-frame deletion of 112 amino acids (p.Tyr237_His348del) [PMID: 18000842]. This variant is not present in gnomAD database and has not been reported in the literature in individuals with a CWF19L1-related disease. Splice site mutation resulting in exon 9 skipping of CWF19L1 has been reported for the patient with autosomal recessive spinocerebellar ataxia-17 [PMID: 25361784]. Based on the available evidence, the c.708+294_1044+1540del variant in the CWF19L1 gene is classified as pathogenic.

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.