ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.69G>A (p.Met23Ile)

dbSNP: rs779326874
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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 RCV001373528 SCV001570247 uncertain significance PRPH2-related disorder 2020-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PRPH2-related conditions. This variant is present in population databases (rs779326874, ExAC 0.001%). This sequence change replaces methionine with isoleucine at codon 23 of the PRPH2 protein (p.Met23Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. 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 C0"). 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.

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