Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000536750 | SCV000647084 | uncertain significance | Axenfeld-Rieger syndrome type 3 | 2023-07-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 469653). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. This missense change has been observed in at least one individual who was not affected with FOXC1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with FOXC1-related conditions. This variant is present in population databases (rs751970827, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 178 of the FOXC1 protein (p.Asp178His). |
| Fulgent Genetics, |
RCV000765882 | SCV000897284 | uncertain significance | Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 | 2022-05-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002526166 | SCV003545565 | uncertain significance | Inborn genetic diseases | 2021-07-26 | criteria provided, single submitter | clinical testing | The c.532G>C (p.D178H) alteration is located in exon 1 (coding exon 1) of the FOXC1 gene. This alteration results from a G to C substitution at nucleotide position 532, causing the aspartic acid (D) at amino acid position 178 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |