Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000085007 | SCV000517301 | pathogenic | not provided | 2015-05-20 | criteria provided, single submitter | clinical testing | The P216L variant in the PRPH2 gene has been reported previously in association with autosomal dominantretinitis pigmentosa (Loewen et al., 2003; Kajiwara et al., 1991). The P216L variant was not observed inapproximately 6,500 samples from individuals of European and African American ancestry in the NHLBI ESPExome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret P216L as a pathogenic variant. |
Invitae | RCV001063368 | SCV001228209 | pathogenic | PRPH2-Related Disorders | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 216 of the PRPH2 protein (p.Pro216Leu). This variant is present in population databases (rs61755806, gnomAD 0.0009%). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 1684223, 28076437). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13164). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 12925772). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075781 | SCV001241414 | pathogenic | Retinal dystrophy | 2019-07-03 | criteria provided, single submitter | clinical testing | |
NEI Ophthalmic Genomics Laboratory, |
RCV001003142 | SCV001424709 | pathogenic | Retinitis pigmentosa | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.647C>T in the PRPH2 gene has been previously studied(PMIDs 1684223, 12925772, 28559085). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755806,CM910324). It is present in gnomAD browser (AF 0.00000406). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-M, PM1, PM2, PM3, PM5, PP3, PP5] and classified NM_000322.4:c.647C>T in the PRPH2 gene as a Pathogenic mutation. |
NEI Ophthalmic Genomics Laboratory, |
RCV001250376 | SCV001424711 | pathogenic | Patterned dystrophy of the retinal pigment epithelium | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.647C>T in the PRPH2 gene has been previously studied(PMIDs 1684223, 12925772, 28559085). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755806,CM910324). It is present in gnomAD browser (AF 0.00000406). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-M, PM1, PM2, PM3, PM5, PP3, PP5] and classified NM_000322.4:c.647C>T in the PRPH2 gene as a Pathogenic mutation. |
Dept Of Ophthalmology, |
RCV001075781 | SCV004707337 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
OMIM | RCV000014050 | SCV000034297 | pathogenic | Retinitis pigmentosa 7 | 1991-12-12 | no assertion criteria provided | literature only | |
Retina International | RCV000085007 | SCV000117143 | not provided | not provided | no assertion provided | not provided | ||
Sharon lab, |
RCV001003142 | SCV001161211 | likely pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Leiden Open Variation Database | RCV000085007 | SCV001745173 | uncertain significance | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Julia Lopez, LOVD, Manon Peeters. |