ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.767G>A (p.Ser256Asn)

gnomAD frequency: 0.00001  dbSNP: rs980783693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025352 SCV002275761 uncertain significance PRPH2-related disorder 2023-09-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 256 of the PRPH2 protein (p.Ser256Asn). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1483119). 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. 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.

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