ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)

dbSNP: rs781358829
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
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV001256207 SCV001190484 likely pathogenic Metatropic dysplasia 2020-03-23 criteria provided, single submitter clinical testing Sequencing analysis of TRPV4 revealed a novel mutation NM_021625.5: c.2391G>C (p.Glu797Asp) in a patient with scoliosis, joint contractures, respiratory distress, spinal stenosis, and skeletal findings including platyspondyly, wafer vertebra, dumbbell-shaped long bones, epiphyseal dysplasia, and metaphyseal widening. The clinical, radiographic, and molecular findings of the patient were consistent with the diagnosis of metatropic dysplasia. This variant was not reported in ExAC and gnomAD databases. This variant was classified as likely pathogenic according to the ACMG Guidelines and predicted to be disease causing by in silico analysis such as MutationTaster.

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.