ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)

gnomAD frequency: 0.00002  dbSNP: rs199572514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074644 SCV001240236 uncertain significance Retinal dystrophy 2019-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554730 SCV003514438 uncertain significance PRPH2-related disorder 2023-01-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 866554). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is present in population databases (rs199572514, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 155 of the PRPH2 protein (p.Thr155Ile).
Leiden Open Variation Database RCV001530343 SCV001745140 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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