Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002962054 | SCV003279731 | uncertain significance | Tyrosinemia type I | 2022-07-30 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 194 of the FAH protein (p.Lys194Glu). This variant is present in population databases (rs373302756, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FAH-related conditions. 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 FAH protein function. 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 | RCV002958797 | SCV003666607 | uncertain significance | Inborn genetic diseases | 2022-12-27 | criteria provided, single submitter | clinical testing | The c.580A>G (p.K194E) alteration is located in exon 7 (coding exon 7) of the FAH gene. This alteration results from a A to G substitution at nucleotide position 580, causing the lysine (K) at amino acid position 194 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002962054 | SCV005635325 | uncertain significance | Tyrosinemia type I | 2024-01-08 | criteria provided, single submitter | clinical testing |