Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
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. |