ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)

dbSNP: rs61755785
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315051 SCV001505607 pathogenic PRPH2-Related Disorders 2023-02-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 153 of the PRPH2 protein (p.Lys153Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 8994365, 19038374; Invitae). ClinVar contains an entry for this variant (Variation ID: 98669). 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003238719 SCV003936110 likely pathogenic Retinitis pigmentosa 2023-07-04 criteria provided, single submitter clinical testing
Retina International RCV000084973 SCV000117109 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084973 SCV001745136 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Manon Peeters, Sandro Banfi.
Clinical Genetics, Academic Medical Center RCV000084973 SCV001921896 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000084973 SCV001951575 likely pathogenic not provided no assertion criteria provided clinical testing

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