ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)

gnomAD frequency: 0.00003  dbSNP: rs759011231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001860530 SCV002167045 uncertain significance PRPH2-related disorder 2023-05-15 criteria provided, single submitter clinical testing 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) 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. ClinVar contains an entry for this variant (Variation ID: 812383). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 31456290; Invitae). This variant is present in population databases (rs759011231, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 309 of the PRPH2 protein (p.Glu309Asp).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818142 SCV005069755 likely pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530337 SCV005188975 uncertain significance not provided criteria provided, single submitter not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003136 SCV001161205 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Leiden Open Variation Database RCV001530337 SCV001745128 likely pathogenic not provided 2020-08-28 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Global Variome, with Curator vacancy.

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