ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.314G>A (p.Cys105Tyr)

dbSNP: rs2152010992
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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 RCV002002294 SCV002237485 uncertain significance PRPH2-related disorder 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine, a(n) neutral and slightly polar amino acid, with tyrosine, a(n) neutral and polar amino acid, at codon 105 of the PRPH2 protein (p.Cys105Tyr). 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 C0"). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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