Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002907812 | SCV003243925 | uncertain significance | Cranioectodermal dysplasia 1 | 2022-03-27 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs779410469, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 582 of the IFT122 protein (p.Val582Met). |
| Ambry Genetics | RCV003348924 | SCV004066569 | uncertain significance | Inborn genetic diseases | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.1744G>A (p.V582M) alteration is located in exon 15 (coding exon 15) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 1744, causing the valine (V) at amino acid position 582 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002907812 | SCV005659566 | uncertain significance | Cranioectodermal dysplasia 1 | 2024-03-29 | criteria provided, single submitter | clinical testing |