ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)

dbSNP: rs61755798
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381219 SCV001579523 pathogenic PRPH2-related disorder 2024-10-08 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 210 of the PRPH2 protein (p.Pro210Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 11139241, 11485765, 16799052; internal data). ClinVar contains an entry for this variant (Variation ID: 98687). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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: 26796962). This variant disrupts the p.Pro210 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7862413, 11139241, 17504850). 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.
Dept Of Ophthalmology, Nagoya University RCV003888458 SCV004707343 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003888458 SCV005072919 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Retina International RCV000084998 SCV000117134 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084998 SCV001745088 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, Manon Peeters, Yoshito Koyanagi.

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