Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV001195425 | SCV001365776 | likely pathogenic | Bietti crystalline corneoretinal dystrophy | 2020-03-03 | criteria provided, single submitter | clinical testing | The p.Glu168LysfsX29 variant in CYP4V2 has not been previously reported in individuals with Bietti crystalline dystrophy but has been identified in 0.01% (1/16244) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 168 and leads to a premature termination codon 29 amino acids downstream. Frameshift and other loss of function variants have been reported in individuals with Bietti crystalline dystrophy (Stenston 2017). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Bietti crystalline dystrophy. ACMG/AMP Criteria applied: PM2, PVS1. |
| Invitae | RCV002561036 | SCV003257494 | pathogenic | not provided | 2022-10-17 | 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: 930032). This variant has not been reported in the literature in individuals affected with CYP4V2-related conditions. This variant is present in population databases (rs746484929, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu168Lysfs*29) 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). |