Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001913102 | SCV002169288 | uncertain significance | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 683 of the CNGB3 protein (p.Thr683Pro). This variant is present in population databases (rs144474033, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1401763). 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 CNGB3 protein function. 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. |
| Fulgent Genetics, |
RCV002478317 | SCV002797651 | uncertain significance | Achromatopsia 3 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002555289 | SCV003735913 | uncertain significance | Inborn genetic diseases | 2022-08-02 | criteria provided, single submitter | clinical testing | The c.2047A>C (p.T683P) alteration is located in exon 17 (coding exon 17) of the CNGB3 gene. This alteration results from a A to C substitution at nucleotide position 2047, causing the threonine (T) at amino acid position 683 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |