Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001312254 | SCV001502696 | uncertain significance | Fanconi anemia | 2023-05-15 | 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) 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 FANCI protein function. ClinVar contains an entry for this variant (Variation ID: 1013636). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 458 of the FANCI protein (p.His458Gln). |
| Ambry Genetics | RCV004034249 | SCV004869871 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.1374T>A (p.H458Q) alteration is located in exon 14 (coding exon 13) of the FANCI gene. This alteration results from a T to A substitution at nucleotide position 1374, causing the histidine (H) at amino acid position 458 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |