Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001053611 | SCV001217882 | uncertain significance | Saldino-Mainzer syndrome | 2022-08-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1035 of the IFT140 protein (p.Arg1035Gln). This variant is present in population databases (rs138596995, gnomAD 0.01%). 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: 849606). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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, |
RCV002481979 | SCV002794219 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2024-02-09 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004813629 | SCV005071866 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |