Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001314172 | SCV001504696 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2022-10-04 | criteria provided, single submitter | clinical testing | 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 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. ClinVar contains an entry for this variant (Variation ID: 1015325). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 56 of the IFT172 protein (p.Lys56Thr). This variant is present in population databases (rs780205001, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. |
| Fulgent Genetics, |
RCV002499606 | SCV002816121 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 | 2021-12-25 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004548157 | SCV004725880 | uncertain significance | IFT172-related disorder | 2023-11-21 | no assertion criteria provided | clinical testing | The IFT172 c.167A>C variant is predicted to result in the amino acid substitution p.Lys56Thr. This variant has been reported in the apparently homozygous state in an individual with liver disease and adult-onset nephronophthisis (Neřoldová et al. 2023. PubMed ID: 37471416). This variant is reported in 0.0026% 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. |
| Institute of Human Genetics, |
RCV004815340 | SCV005069721 | uncertain significance | Retinal dystrophy | 2019-01-01 | no assertion criteria provided | clinical testing |