Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001055756 | SCV001220161 | uncertain significance | Saldino-Mainzer syndrome | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 597 of the IFT140 protein (p.Ser597Ala). This variant is present in population databases (rs771450990, gnomAD 0.02%). 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: 851373). 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 tolerated. 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 | RCV003259067 | SCV003977379 | uncertain significance | Inborn genetic diseases | 2023-05-30 | criteria provided, single submitter | clinical testing | The c.1789T>G (p.S597A) alteration is located in exon 16 (coding exon 14) of the IFT140 gene. This alteration results from a T to G substitution at nucleotide position 1789, causing the serine (S) at amino acid position 597 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |