ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.473G>A (p.Arg158His)

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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 RCV002636569 SCV003505489 uncertain significance Diamond-Blackfan anemia 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 158 of the RPS10 protein (p.Arg158His). This variant is not present in population databases (gnomAD no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV005045341 SCV005669048 uncertain significance Diamond-Blackfan anemia 9 2024-06-01 criteria provided, single submitter clinical testing

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