ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser)

gnomAD frequency: 0.00002  dbSNP: rs781256236
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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 RCV001882582 SCV002182179 uncertain significance PRPH2-related disorder 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 137 of the PRPH2 protein (p.Gly137Ser). This variant is present in population databases (rs781256236, gnomAD 0.008%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 16799052). ClinVar contains an entry for this variant (Variation ID: 1175245). 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. This variant disrupts the p.Gly137 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18310263, 30217183). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 RCV001530285 SCV001745043 benign not specified 2021-03-07 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Julia Lopez.

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