Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001928954 | SCV002204286 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1669 of the IFT172 protein (p.Ala1669Thr). This variant is present in population databases (rs146575848, gnomAD 0.01%). 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: 1423606). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT172 protein function. 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 | RCV002561337 | SCV003660785 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.5005G>A (p.A1669T) alteration is located in exon 46 (coding exon 46) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 5005, causing the alanine (A) at amino acid position 1669 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |