ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)

dbSNP: rs61755795
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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 RCV001854488 SCV002173531 likely pathogenic PRPH2-related disorder 2023-05-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 98676). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 11139241, 26747767; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 178 of the PRPH2 protein (p.Gln178Arg).
Retina International RCV000084984 SCV000117120 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084984 SCV001745068 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, Manon Peeters.

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