ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)

dbSNP: rs61755799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882585 SCV002235767 pathogenic PRPH2-related disorder 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1175266). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 9587927, 9673478, 10193525, 25447119). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 211 of the PRPH2 protein (p.Phe211Leu).
Dept Of Ophthalmology, Nagoya University RCV003888299 SCV004707341 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003888299 SCV005070586 likely pathogenic Retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530319 SCV001745092 uncertain significance not provided 2019-07-24 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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