ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs139021548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
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, Revvity Omics RCV003488445 SCV004238244 likely pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing

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