ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.547C>T (p.Arg183Cys)

gnomAD frequency: 0.00001  dbSNP: rs755449912
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026739 SCV002312294 uncertain significance PRPH2-related disorder 2021-02-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs755449912, ExAC 0.001%). 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. This variant has not been reported in the literature in individuals with PRPH2-related conditions. This sequence change replaces arginine with cysteine at codon 183 of the PRPH2 protein (p.Arg183Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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