ClinVar Miner

Submissions for variant NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)

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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 RCV002637352 SCV003513799 uncertain significance Diamond-Blackfan anemia 2022-03-23 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 tolerated. This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 117 of the RPL26 protein (p.Lys117Gln). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RPL26-related conditions.

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