Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268102 | SCV001446756 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001268102 | SCV002229115 | pathogenic | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 492 of the FZD4 protein (p.Gly492Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant has been observed in individual(s) with familial exudative vitreoretinopathy (PMID: 17899116). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 986930). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant does not substantially affect FZD4 protein function (PMID: 24744206). |