Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001943316 | SCV002182245 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-05-13 | criteria provided, single submitter | clinical testing | This variant, c.4876_4878dup, results in the insertion of 1 amino acid(s) of the IFT172 protein (p.Pro1626dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with retinitis pigmentosa (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ambry Genetics | RCV002556344 | SCV003538360 | uncertain significance | Inborn genetic diseases | 2021-01-08 | criteria provided, single submitter | clinical testing | The c.4876_4878dupCCC (p.P1626dup) alteration is located in exon 45 (coding exon 45) of the IFT172 gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 4876 to 4878, resulting in the duplication of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |