ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) (rs146206499)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413333 SCV000492219 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ACVRL1 gene. The T450A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T450A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where only amino acids with similar properties to Threonine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, the Exome Aggregation Consortium (ExAC) reports T450A was observed in 30/66,722 (0.05%) alleles from individuals of Non-Finnish European background.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Invitae RCV000863196 SCV001003815 benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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.