ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)

dbSNP: rs398122883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000030733 SCV000266542 pathogenic Loeys-Dietz syndrome 4 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000030733 SCV000548097 uncertain significance Loeys-Dietz syndrome 4 2020-10-20 criteria provided, single submitter clinical testing This variant, c.294_308del, results in the deletion of 5 amino acid(s) of the TGFB2 protein (p.Ala100_Tyr104del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with TGFB2-related conditions (PMID: 22772368, Invitae). ClinVar contains an entry for this variant (Variation ID: 37086). This variant is not present in population databases (ExAC no frequency).
OMIM RCV000030733 SCV000053394 pathogenic Loeys-Dietz syndrome 4 2012-07-08 no assertion criteria provided literature only

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.