ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) (rs139021548)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190597 SCV000245624 likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly 2015-03-10 criteria provided, single submitter clinical testing The p.Arg38X variant in IFT172 has not been previously reported in individuals with disease. This variant has been identified in 0.01% (4/67682) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs139021548). This nonsense variant leads to a premature termination codon at position 38 which is predicted to lead to a truncated or absent protein. Homozygous or compound heterozygous mutation in the IFT172 gene has been shown to cause short-rib thoracic dysplasia with or without polydactyly. In summary, although additional studies are required to fully establish its clinical significance, the p.Arg38X variant is likely pathogenic.

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