ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys)

gnomAD frequency: 0.00001  dbSNP: rs370994796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371896 SCV001568480 likely pathogenic PRPH2-related disorder 2022-12-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs370994796, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 284 of the PRPH2 protein (p.Arg284Cys). This missense change has been observed in individuals with autosomal dominant macular dystrophy (Invitae). 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: 1062205).
Leiden Open Variation Database RCV001530263 SCV001745014 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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