ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4068+7G>A (rs587780905)

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767944 SCV000898630 uncertain significance Ehlers-Danlos syndrome, classic type 2018-06-16 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 51 (c.4068+7G>A): This variant has not been reported in the literature but is present in 10/125162 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs587780905). This variant is present in ClinVar (Variation ID:136888). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it may alter splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000124447 SCV000167880 benign not specified 2013-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.