Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001858612 | SCV002247231 | pathogenic | not provided | 2021-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg187*) in the RAB3GAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAB3GAP1 are known to be pathogenic (PMID: 23420520). This variant is present in population databases (rs764260054, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of Warburg micro syndrome (PMID: 28454995, 29878067). ClinVar contains an entry for this variant (Variation ID: 800891). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001858612 | SCV003805282 | pathogenic | not provided | 2022-08-15 | 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28454995, 29878067) |
Biochemical Molecular Genetic Laboratory, |
RCV000985081 | SCV001133041 | likely pathogenic | Warburg micro syndrome 1 | 2019-09-26 | no assertion criteria provided | clinical testing |