ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.528+5G>A (rs794728038)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250174 SCV000318321 uncertain significance Cardiovascular phenotype 2015-04-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512993 SCV000609013 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000512993 SCV000695376 uncertain significance not provided 2016-12-25 criteria provided, single submitter clinical testing Variant summary: c.528+5G>A in COL3A1 gene is an intronic change that involves a highly conserved nucleotide. 5/5 programs in Alamut predict that this variant eliminates the donor splice site, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control population dataset of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as VUS by a reputable database/clinical laboratory. Considering all, due to the lack of sufficient clinical information on carriers and absence of functional studies the variant has been currently classified as a variant of uncertain significance until additional information becomes available.
Invitae RCV000464806 SCV000541788 uncertain significance Ehlers-Danlos syndrome, type 4 2016-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL3A1-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms, this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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.