Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852653 | SCV002242018 | pathogenic | not provided | 2021-08-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 39248). This premature translational stop signal has been observed in individual(s) with CYP4V2-related conditions (PMID: 16088246, 28512305, 29785639). This variant is present in population databases (rs199476198, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Trp340*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). |
Dept Of Ophthalmology, |
RCV003887875 | SCV004706591 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Gene |
RCV000032525 | SCV000056188 | pathologic | Bietti crystalline corneoretinal dystrophy | 2012-04-12 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |