Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV000033118 | SCV006585363 | pathogenic | Vici syndrome | 2024-12-09 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000039984 /PMID: 23222957). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Gene |
RCV004700299 | SCV005201728 | pathogenic | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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: 28333917, 26917586, 23222957) |
| Labcorp Genetics |
RCV000033118 | SCV004297835 | pathogenic | Vici syndrome | 2024-08-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2078*) 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 (rs587776942, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Vici syndrome (PMID: 23222957). ClinVar contains an entry for this variant (Variation ID: 39984). For these reasons, this variant has been classified as Pathogenic. |
| SIB Swiss Institute of Bioinformatics | RCV000033118 | SCV000899147 | pathogenic | Vici syndrome | 2019-01-17 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Vici syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:23222957). |
| Genetic Services Laboratory, |
RCV000033118 | SCV000247310 | pathogenic | Vici syndrome | 2015-02-23 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000033118 | SCV000056899 | pathogenic | Vici syndrome | 2013-01-01 | no assertion criteria provided | literature only |