ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu)

dbSNP: rs1761905174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075096 SCV001240707 uncertain significance Retinal dystrophy 2018-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862594 SCV002190877 uncertain significance PRPH2-related disorder 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 190 of the PRPH2 protein (p.Lys190Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal dystrophy (PMID: 35260635). ClinVar contains an entry for this variant (Variation ID: 866791). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. 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.

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