ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)

dbSNP: rs1800117660
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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 RCV001247898 SCV001421350 pathogenic PRPH2-related disorder 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 202 of the PRPH2 protein (p.Gly202Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant PRPH2-related conditions (PMID: 33546218; Invitae). ClinVar contains an entry for this variant (Variation ID: 971980). 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV001353008 SCV001548102 likely pathogenic Patterned macular dystrophy 1 2021-01-30 criteria provided, single submitter clinical testing

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