ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.580G>C (p.Asp194His)

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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 RCV002615903 SCV003505927 uncertain significance PRPH2-related disorder 2022-07-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is present in population databases (rs756746825, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 194 of the PRPH2 protein (p.Asp194His).

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