ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)

dbSNP: rs1563659467
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685852 SCV000813351 likely pathogenic Multiple congenital exostosis 2018-06-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 191 of the EXT1 protein (p.Leu191Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to segregate with hereditary multiple exotoses in a family (Invitae) and has been reported in an additional, unrelated affected individual (PMID: 17041877).

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.