ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52_54GCG[10] (p.Ala26dup) (rs11466445)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000195794 SCV000702913 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000195794 SCV000250867 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000526310 SCV000658857 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-11-30 criteria provided, single submitter clinical testing This sequence change inserts 3 nucleotides in exon 1 of the TGFBR1 mRNA (c.76_78dupGCG). This leads to the addition of one alanine (Ala) residue and expands Ala-repeats from 9 to 10 in the TGFBR1 protein (p.Ala26dup) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs750857489) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a TGFBR1-related disease. ClinVar contains an entry for this variant (Variation ID: 213864). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, this variant is a rare in-frame duplication of one amino acid 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.