ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.203_258del (p.Val68fs)

dbSNP: rs1954081053
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001220127 SCV001392101 pathogenic Exostoses, multiple, type 2 2023-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val68Aspfs*6) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary multiple exostoses (Invitae). ClinVar contains an entry for this variant (Variation ID: 948798). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004720095 SCV005325258 pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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.