ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)

gnomAD frequency: 0.00003  dbSNP: rs202230698
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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 RCV001882586 SCV002149599 uncertain significance PRPH2-related disorder 2023-08-24 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PRPH2 function (PMID: 21347327). 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 not expected to disrupt PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 1175304). This missense change has been observed in individual(s) with autosomal dominant PRPH2-related conditions (PMID: 18310263, 19506198, 23049240, 23563732, 31054281). This variant is present in population databases (rs202230698, gnomAD 0.09%). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 316 of the PRPH2 protein (p.Trp316Gly).
Leiden Open Variation Database RCV001530389 SCV001745199 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo.

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