ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2607+5G>T

dbSNP: rs587779457
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
GeneDx RCV003148648 SCV003836920 likely pathogenic not provided 2022-08-29 criteria provided, single submitter clinical testing Identified in a patient with vEDS in published literature (Wu et al., 1993); Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate exon skipping and loss of exon 37 (Wu et al., 1993); In silico analysis supports a deleterious effect on splicing; Damages or destroys the splice donor site in intron 37, and is expected to cause abnormal gene splicing; as the splice outcome is exon skip, the loss of the encoded residues in the triple helical region is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (HGMD); This variant is associated with the following publications: (PMID: 25525159, 9399899, 8477261)
Collagen Diagnostic Laboratory, University of Washington RCV000087386 SCV000120269 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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.