Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001863461 | SCV002117394 | uncertain significance | Cranioectodermal dysplasia 1 | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1247 of the IFT122 protein (p.Arg1247Cys). This variant is present in population databases (rs201590142, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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, |
RCV001863461 | SCV002815009 | uncertain significance | Cranioectodermal dysplasia 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002545764 | SCV003679172 | uncertain significance | Inborn genetic diseases | 2022-11-17 | criteria provided, single submitter | clinical testing | The c.3739C>T (p.R1247C) alteration is located in exon 30 (coding exon 30) of the IFT122 gene. This alteration results from a C to T substitution at nucleotide position 3739, causing the arginine (R) at amino acid position 1247 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |