ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp)

dbSNP: rs2152005234
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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 RCV002568887 SCV003439411 uncertain significance PRPH2-related disorder 2021-12-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 1175301). This missense change has been observed in individual(s) with PRPH2-related conditions (PMID: 25447119). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 253 of the PRPH2 protein (p.Ala253Asp).
Leiden Open Variation Database RCV001530378 SCV001745186 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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