Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000623689 | SCV000742018 | pathogenic | Inborn genetic diseases | 2017-05-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003555944 | SCV004294914 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 570 of the LRP5 protein (p.Arg570Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with exudative vitreoretinopathy and/or vision impairment (PMID: 15346351, 30894705, 35754085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6289). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRP5 protein function. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000006669 | SCV000026852 | pathogenic | Exudative vitreoretinopathy 4, autosomal recessive | 2004-11-01 | no assertion criteria provided | literature only |