Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Daryl Scott Lab, |
RCV001041165 | SCV006555508 | pathogenic | Vici syndrome | 2025-08-25 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP1 |
| Gene |
RCV001574246 | SCV001801033 | pathogenic | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26854214, 31216405) |
| Baylor Genetics | RCV001041165 | SCV001529278 | pathogenic | Vici syndrome | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease causing [PMID 26854214] |
| Labcorp Genetics |
RCV001041165 | SCV001204765 | pathogenic | Vici syndrome | 2024-06-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln906*) in the EPG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064). This variant is present in population databases (rs756503608, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with Vici syndrome associated with idiopathic thrombocytopenic purpura (ITP) (PMID: 26854214). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 839415). For these reasons, this variant has been classified as Pathogenic. |