Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003032146 | SCV003327954 | uncertain significance | PRPH2-related disorder | 2023-08-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 188 of the PRPH2 protein (p.Ser188Phe). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 2110526). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. |
| Ambry Genetics | RCV004960912 | SCV005482765 | uncertain significance | Inborn genetic diseases | 2024-11-11 | criteria provided, single submitter | clinical testing | The c.563C>T (p.S188F) alteration is located in exon 1 (coding exon 1) of the PRPH2 gene. This alteration results from a C to T substitution at nucleotide position 563, causing the serine (S) at amino acid position 188 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |