ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)

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
Invitae RCV001039837 SCV001203386 pathogenic Multiple exostoses type 2 2020-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg649*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs765648513, ExAC 0.008%). This variant has been observed in an individual affected with multiple osteochondromas (PMID: 19344451). Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091959 SCV001248263 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001039837 SCV001259402 uncertain significance Multiple exostoses type 2 2018-07-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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.