ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)

dbSNP: rs1322278463
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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 RCV003591878 SCV004293631 uncertain significance PRPH2-related disorder 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 195 of the PRPH2 protein (p.Arg195Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of PRPH2-related conditions (PMID: 22183351; Invitae). ClinVar contains an entry for this variant (Variation ID: 1175290). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg195 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14557183, 20213611, 26796962). 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 RCV001530356 SCV001745154 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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