Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001236742 | SCV001409478 | uncertain significance | Leber congenital amaurosis 3 | 2022-10-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 962820). 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 SPATA7 protein function. This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. This variant is present in population databases (rs374126653, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 129 of the SPATA7 protein (p.Pro129Leu). |
| Gene |
RCV001760251 | SCV001991109 | uncertain significance | not provided | 2019-01-31 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
| 3billion, |
RCV001236742 | SCV005328772 | likely benign | Leber congenital amaurosis 3 | 2024-09-20 | criteria provided, single submitter | clinical testing | The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant. |