Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000802092 | SCV000941907 | uncertain significance | Vici syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2072 of the EPG5 protein (p.Ala2072Gly). This variant is present in population databases (rs764464544, gnomAD 0.008%). 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: 647558). 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 EPG5 protein function with a negative predictive value of 80%. 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 | RCV002534696 | SCV003716905 | uncertain significance | Inborn genetic diseases | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.6215C>G (p.A2072G) alteration is located in exon 36 (coding exon 36) of the EPG5 gene. This alteration results from a C to G substitution at nucleotide position 6215, causing the alanine (A) at amino acid position 2072 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |