Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
Invitae | RCV001387370 | SCV001587985 | pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg38*) in the IFT172 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT172 are known to be pathogenic (PMID: 24140113). This variant is present in population databases (rs139021548, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 208589). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003488445 | SCV004238244 | likely pathogenic | not provided | 2023-02-17 | criteria provided, single submitter | clinical testing |