ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.928_929delinsGA (p.Arg310Glu)

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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 RCV003757451 SCV004405967 uncertain significance PRPH2-related disorder 2022-12-26 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 310 of the PRPH2 protein (p.Arg310Glu). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available").

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