Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV005831882 | SCV006519577 | uncertain significance | Inborn genetic diseases | 2025-08-29 | criteria provided, single submitter | clinical testing | The c.3397G>C (p.V1133L) alteration is located in exon 19 (coding exon 19) of the EPG5 gene. This alteration results from a G to C substitution at nucleotide position 3397, causing the valine (V) at amino acid position 1133 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| New York Genome Center | RCV001369188 | SCV002099204 | uncertain significance | Vici syndrome | 2021-04-25 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001369188 | SCV001565618 | uncertain significance | Vici syndrome | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with leucine at codon 1133 of the EPG5 protein (p.Val1133Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |