Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV001268952 | SCV001334142 | likely pathogenic | Short stature; Joint dislocation | 2020-05-14 | criteria provided, single submitter | clinical testing | Sequencing analysis of the CANT1 gene revealed a novel homozygous mutation (c.739T>C, p.Trp247Arg) in two siblings and in an unrelated patient presented with joint dislocations and short stature. The consanguineous parents were heterozygous carriers. The W247R mutation was neither described in ExaC nor 1000 Genomes Project databases and there is only one heterozygous individual in gnomAD data. This variant was classified as likely pathogenic according to the ACMG variant classification criterias and evaluated as deleterious by in silico analysis such as MutationTaster and PolyPhen-2. |