ClinVar Miner

Submissions for variant NM_130468.4(CHST14):c.398A>C (p.Gln133Pro)

gnomAD frequency: 0.00013  dbSNP: rs866817984
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
Eurofins Ntd Llc (ga) RCV000598134 SCV000707507 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV001300844 SCV001489994 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 133 of the CHST14 protein (p.Gln133Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. ClinVar contains an entry for this variant (Variation ID: 501222). 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"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279383 SCV002565417 uncertain significance Ehlers-Danlos syndrome 2018-08-07 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.