Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000807688 | SCV000947754 | uncertain significance | Vici syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 2263 of the EPG5 protein (p.His2263Asp). This variant is present in population databases (rs201639757, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 652181). 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 EPG5 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 | RCV004972982 | SCV005577481 | uncertain significance | Inborn genetic diseases | 2024-06-25 | criteria provided, single submitter | clinical testing | The c.6787C>G (p.H2263D) alteration is located in exon 40 (coding exon 40) of the EPG5 gene. This alteration results from a C to G substitution at nucleotide position 6787, causing the histidine (H) at amino acid position 2263 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |