Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001054277 | SCV001218582 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 87 of the CNGB3 protein (p.Asp87Gly). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 850169). 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. |
| Ambry Genetics | RCV002553340 | SCV003629446 | uncertain significance | Inborn genetic diseases | 2022-06-27 | criteria provided, single submitter | clinical testing | The c.260A>G (p.D87G) alteration is located in exon 3 (coding exon 3) of the CNGB3 gene. This alteration results from a A to G substitution at nucleotide position 260, causing the aspartic acid (D) at amino acid position 87 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001832492 | SCV002076111 | uncertain significance | Achromatopsia | 2021-09-22 | no assertion criteria provided | clinical testing |