Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000086314 | SCV000339402 | likely pathogenic | not provided | 2016-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001380408 | SCV001578473 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-08-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function. ClinVar contains an entry for this variant (Variation ID: 99876). This missense change has been observed in individuals with CRB1-related conditions (PMID: 15024725, 20956273, 22065545). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs62636267, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 741 of the CRB1 protein (p.Met741Thr). |
Genome- |
RCV001250657 | SCV004180012 | likely pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453017 | SCV004180013 | likely pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086314 | SCV000118460 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Genetics in Ophthalmology, |
RCV001250657 | SCV001425528 | likely pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research |