Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001301374 | SCV001490541 | uncertain significance | MHC class II deficiency | 2023-06-09 | 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 RFXAP protein function. ClinVar contains an entry for this variant (Variation ID: 1004634). This variant has not been reported in the literature in individuals affected with RFXAP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 114 of the RFXAP protein (p.Glu114Val). |
| Ambry Genetics | RCV004036202 | SCV004939386 | uncertain significance | not specified | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.341A>T (p.E114V) alteration is located in exon 1 (coding exon 1) of the RFXAP gene. This alteration results from a A to T substitution at nucleotide position 341, causing the glutamic acid (E) at amino acid position 114 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |