Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001213706 | SCV001385353 | uncertain significance | not provided | 2023-07-07 | 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 expected to disrupt PDE6A protein function. ClinVar contains an entry for this variant (Variation ID: 943507). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. This variant is present in population databases (rs577146307, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 750 of the PDE6A protein (p.Arg750Cys). |
| Ambry Genetics | RCV002562395 | SCV003709761 | uncertain significance | Inborn genetic diseases | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.2248C>T (p.R750C) alteration is located in exon 19 (coding exon 19) of the PDE6A gene. This alteration results from a C to T substitution at nucleotide position 2248, causing the arginine (R) at amino acid position 750 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004813896 | SCV005069724 | uncertain significance | Retinal dystrophy | 2019-01-01 | no assertion criteria provided | clinical testing |