Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002575394 | SCV002935844 | uncertain significance | Vici syndrome | 2022-04-22 | criteria provided, single submitter | clinical testing | This variant, c.73_75del, results in the deletion of 1 amino acid(s) of the EPG5 protein (p.Lys25del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773704123, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002575393 | SCV003759644 | uncertain significance | Inborn genetic diseases | 2022-02-24 | criteria provided, single submitter | clinical testing | The c.73_75delAAG (p.K25del) alteration is located in exon 2 (coding exon 2) of the EPG5 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.73 and c.75, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |