ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.23G>A (p.Arg8His)

gnomAD frequency: 0.00001  dbSNP: rs1291294524
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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 RCV001930702 SCV002193581 uncertain significance Diamond-Blackfan anemia 2021-04-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 8 of the RPS24 protein (p.Arg8His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPS24-related conditions. 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 C25"). 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.
Fulgent Genetics, Fulgent Genetics RCV005042512 SCV005682975 uncertain significance Diamond-Blackfan anemia 3 2023-12-24 criteria provided, single submitter clinical testing

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