Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NEI Ophthalmic Genomics Laboratory, |
RCV001250283 | SCV001424595 | uncertain significance | Stargardt disease | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.614T>C in the PRPH2 gene has not been reported to our knowledge . We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PP3] and classified NM_000322.4:c.614T>C in the PRPH2 gene as a Variant of Uncertain Significance. |
Gene |
RCV001530237 | SCV001823132 | uncertain significance | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 32531846) |
Labcorp Genetics |
RCV003770295 | SCV004641532 | uncertain significance | PRPH2-related disorder | 2023-01-08 | 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 PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 973709). This missense change has been observed in individual(s) with PRPH2-related conditions (PMID: 32531846, 34411390). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 205 of the PRPH2 protein (p.Leu205Pro). |
Leiden Open Variation Database | RCV001530237 | SCV001744977 | uncertain significance | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |