Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001239949 | SCV001412858 | uncertain significance | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2023-05-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt CRX protein function. ClinVar contains an entry for this variant (Variation ID: 965487). This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is present in population databases (rs761290111, gnomAD 0.06%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 197 of the CRX protein (p.Pro197Leu). |
| Ambry Genetics | RCV002563962 | SCV003726409 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.590C>T (p.P197L) alteration is located in exon 4 (coding exon 3) of the CRX gene. This alteration results from a C to T substitution at nucleotide position 590, causing the proline (P) at amino acid position 197 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004813978 | SCV005070552 | uncertain significance | Retinal dystrophy | 2016-01-01 | no assertion criteria provided | clinical testing |