ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7330C>T (p.Arg2444Trp) (rs771424958)

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
Broad Institute Rare Disease Group,Broad Institute RCV000785955 SCV000924537 uncertain significance Ullrich congenital muscular dystrophy 1 2018-06-15 criteria provided, single submitter research The heterozygous p.Arg2444Trp variant was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in one individual with Ullrich congenital muscular dystrophy. This variant was absent from large population studies. The Arginine (Arg) at position 2444 is conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain.

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.