ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu)

dbSNP: rs1331346375
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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 RCV002568180 SCV003439378 uncertain significance PRPH2-related disorder 2022-10-18 criteria provided, single submitter clinical testing 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. 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 C35"). ClinVar contains an entry for this variant (Variation ID: 1175289). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 25447119). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 194 of the PRPH2 protein (p.Asp194Glu).
Leiden Open Variation Database RCV001530354 SCV001745152 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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