Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761334 | SCV000891320 | likely pathogenic | Cone-rod dystrophy | 2017-07-13 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987697 | SCV001137116 | pathogenic | Patterned macular dystrophy 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001047360 | SCV001211312 | pathogenic | PRPH2-Related Disorders | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 195 of the PRPH2 protein (p.Arg195Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant PRPH2-related conditions (PMID: 25082885, 30726412, 30926958; Invitae). ClinVar contains an entry for this variant (Variation ID: 623212). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg195 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14557183, 20213611, 26796962). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
NEI Ophthalmic Genomics Laboratory, |
RCV001250356 | SCV001424684 | likely pathogenic | Patterned dystrophy of the retinal pigment epithelium | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.584G>A in the PRPH2 gene has been previously studied(PMID 25082885). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM149326). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM1, PM2, PM5, PP3, PP5] and classified NM_000322.4:c.584G>A in the PRPH2 gene as a Likely Pathogenic mutation. |
Leiden Open Variation Database | RCV001530357 | SCV001745156 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |