ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.164G>A (p.Arg55Gln)

gnomAD frequency: 0.00001  dbSNP: rs1765898082
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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 RCV001955034 SCV002209243 uncertain significance Diamond-Blackfan anemia 2021-09-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPS10-related conditions. 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 tolerated. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 55 of the RPS10 protein (p.Arg55Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.

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