Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001911433 | SCV002173138 | uncertain significance | Axenfeld-Rieger syndrome type 3 | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 370 of the FOXC1 protein (p.Ser370Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FOXC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400670). 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 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. |
| Fulgent Genetics, |
RCV002490197 | SCV002780715 | uncertain significance | Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 | 2022-05-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004041760 | SCV004872298 | uncertain significance | Inborn genetic diseases | 2023-12-08 | criteria provided, single submitter | clinical testing | The c.1109G>C (p.S370T) 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 1109, causing the serine (S) at amino acid position 370 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |