ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln)

gnomAD frequency: 0.00006  dbSNP: rs762660751
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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 RCV001873757 SCV002224268 uncertain significance PRPH2-related disorder 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 308 of the PRPH2 protein (p.Leu308Gln). This variant is present in population databases (rs762660751, gnomAD 0.006%). This missense change has been observed in individuals with clinical features of autosomal dominant PRPH2-related conditions (PMID: 32717343, 34411390; Invitae). ClinVar contains an entry for this variant (Variation ID: 1175278). 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.
Leiden Open Variation Database RCV001530336 SCV001745127 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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