ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.2T>A (p.Met1Lys) (rs1555361455)

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
Invitae RCV000538292 SCV000658987 uncertain significance Loeys-Dietz syndrome 4 2017-07-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TGFB3 mRNA. The next possible secondary initiator methionine is two codons downstream. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TGFB3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this event are currently unknown. In summary, this variant is a novel initiator codon change with uncertain impact on protein function. 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.