ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)

dbSNP: rs121918567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084990 SCV001334737 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV002513034 SCV003439428 pathogenic PRPH2-related disorder 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 195 of the PRPH2 protein (p.Arg195Leu). This variant is present in population databases (rs121918567, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. 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: 25082885; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 26796962). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 13182). This missense change has been observed in individuals with autosomal dominant choroidal dystrophy (PMID: 14557183, 20213611). It has also been observed to segregate with disease in related individuals.
OMIM RCV000014070 SCV000034317 pathogenic Choroidal dystrophy, central areolar 2 2003-10-01 no assertion criteria provided literature only
Retina International RCV000084990 SCV000117126 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084990 SCV001745155 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo.

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