Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002780450 | SCV003024621 | uncertain significance | not provided | 2022-10-26 | 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 has not been reported in the literature in individuals affected with FAT4-related conditions. This variant is present in population databases (rs745988075, gnomAD 0.09%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3335 of the FAT4 protein (p.Tyr3335Cys). |
| Ambry Genetics | RCV004973605 | SCV005579854 | uncertain significance | Inborn genetic diseases | 2024-09-10 | criteria provided, single submitter | clinical testing | The c.10004A>G (p.Y3335C) alteration is located in exon 9 (coding exon 9) of the FAT4 gene. This alteration results from a A to G substitution at nucleotide position 10004, causing the tyrosine (Y) at amino acid position 3335 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005027951 | SCV005657531 | uncertain significance | Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 | 2024-01-29 | criteria provided, single submitter | clinical testing |