ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)

dbSNP: rs61755808
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815034 SCV005071819 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089563 SCV005834546 uncertain significance PRPH2-related disorder 2024-04-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 219 of the PRPH2 protein (p.Pro219Arg). This variant is present in population databases (rs61755808, gnomAD 0.003%). This missense change has been observed in individual(s) with macular dystrophy or central areolar choroidal dystrophy (PMID: 9443872, 34411390). ClinVar contains an entry for this variant (Variation ID: 98696). 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%. 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.
Retina International RCV000085008 SCV000117144 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085008 SCV001744984 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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