ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)

dbSNP: rs1361897950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 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.

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