ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)

dbSNP: rs121918567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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, National Institutes of Health 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.

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