Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001927253 | SCV002166884 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | 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. 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 FAT4 protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 1116 of the FAT4 protein (p.Gly1116Trp). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1393844). |
| Ambry Genetics | RCV004975795 | SCV005583500 | uncertain significance | Inborn genetic diseases | 2024-08-28 | criteria provided, single submitter | clinical testing | The c.3346G>T (p.G1116W) alteration is located in exon 1 (coding exon 1) of the FAT4 gene. This alteration results from a G to T substitution at nucleotide position 3346, causing the glycine (G) at amino acid position 1116 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005023389 | SCV005657884 | uncertain significance | Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 | 2024-03-07 | criteria provided, single submitter | clinical testing |