Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001361415 | SCV001557391 | uncertain significance | Saldino-Mainzer syndrome | 2022-08-21 | criteria provided, single submitter | clinical testing | This variant, c.3142_3144del, results in the deletion of 1 amino acid(s) of the IFT140 protein (p.Glu1048del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754866110, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053111). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Fulgent Genetics, |
RCV002493844 | SCV002798253 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2022-02-03 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004753296 | SCV005341825 | uncertain significance | IFT140-related disorder | 2024-04-17 | no assertion criteria provided | clinical testing | The IFT140 c.3142_3144delGAG variant is predicted to result in an in-frame deletion (p.Glu1048del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |