Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001325328 | SCV001516319 | uncertain significance | Saldino-Mainzer syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1025061). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1108 of the IFT140 protein (p.Val1108Met). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
| Ambry Genetics | RCV003382527 | SCV004088159 | uncertain significance | Inborn genetic diseases | 2023-09-12 | criteria provided, single submitter | clinical testing | The c.3322G>A (p.V1108M) alteration is located in exon 26 (coding exon 24) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 3322, causing the valine (V) at amino acid position 1108 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |