Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004583693 | SCV005063318 | likely pathogenic | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2023-10-11 | criteria provided, single submitter | clinical testing | This variant results in the deletion of exons 19-26 and part of exon 27 (c.1938-1055_2901delinsG) of the IFT172 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IFT172 are known to be pathogenic (PMID: 24140113). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant disrupts a region of the IFT172 protein in which other variant(s) (p.His719Tyr) have been observed in individuals with IFT172-related conditions (PMID: 32451492). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |