ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)

dbSNP: rs786205579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171395 SCV000221592 likely pathogenic not provided criteria provided, single submitter research
Blueprint Genetics RCV001073434 SCV001238975 pathogenic Retinal dystrophy 2019-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517650 SCV003439429 pathogenic PRPH2-related disorder 2022-02-20 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: 191208). This missense change has been observed in individuals with PRPH2-related conditions (PMID: 26061163, 26355662; Invitae). 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 166 of the PRPH2 protein (p.Cys166Tyr).
Leiden Open Variation Database RCV000171395 SCV001744953 uncertain significance not provided 2021-04-29 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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