Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001360980 | SCV001556937 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-08-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1052739). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2672_2680del, results in the deletion of 3 amino acid(s) of the IFT172 protein (p.Leu891_Ala893del), but otherwise preserves the integrity of the reading frame. |
| Fulgent Genetics, |
RCV005023084 | SCV005651393 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 | 2024-02-27 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004738265 | SCV005357242 | uncertain significance | IFT172-related disorder | 2023-10-27 | no assertion criteria provided | clinical testing | The IFT172 c.2672_2680del9 variant is predicted to result in an in-frame deletion (p.Leu891_Ala893del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |