Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002051342 | SCV002113780 | uncertain significance | not provided | 2024-03-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 78 of the HNF4A protein (p.Arg78Gln). This variant is present in population databases (rs371557531, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of HNF4A-related conditions (PMID: 32041611). This variant is also known as c.299G>A (p.Arg100Gln). ClinVar contains an entry for this variant (Variation ID: 1350522). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HNF4A 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. |
| Fulgent Genetics, |
RCV002482433 | SCV002786342 | uncertain significance | Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2022-04-08 | criteria provided, single submitter | clinical testing |