ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)

dbSNP: rs1564120661
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
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000761570 SCV000890135 likely benign Marfan syndrome 2019-03-14 criteria provided, single submitter clinical testing The c.8C>T (p.Ala3Val) variant in TGFBR1 is very rare (not reported in population databases) but has a benign computational verdict. Furthermore, the patient who carried this variant had a clinical diagnosis of Marfan syndrome, which was confirmed by MLPA analysis, that identified an intragenic deletion of FBN1.

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.