Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002885717 | SCV003243232 | uncertain significance | Cranioectodermal dysplasia 1 | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1257 of the IFT122 protein (p.Met1257Val). This variant is present in population databases (rs768057751, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. 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 IFT122 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. |
| Revvity Omics, |
RCV002885717 | SCV003813246 | uncertain significance | Cranioectodermal dysplasia 1 | 2020-11-20 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004983163 | SCV005604208 | uncertain significance | Inborn genetic diseases | 2024-09-30 | criteria provided, single submitter | clinical testing | The c.3769A>G (p.M1257V) alteration is located in exon 30 (coding exon 30) of the IFT122 gene. This alteration results from a A to G substitution at nucleotide position 3769, causing the methionine (M) at amino acid position 1257 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |