ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)

dbSNP: rs61755788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388978 SCV001590173 pathogenic PRPH2-related disorder 2022-09-02 criteria provided, single submitter clinical testing This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 9673478, 25447119). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 10747861). 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: 98672). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 165 of the PRPH2 protein (p.Cys165Tyr).
Retina International RCV000084976 SCV000117112 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084976 SCV001744952 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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