ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)

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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 RCV003616987 SCV004471277 uncertain significance Diamond-Blackfan anemia 2023-05-21 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 has not been reported in the literature in individuals affected with RPS10-related conditions. This variant is present in population databases (rs745760166, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 8 of the RPS10 protein (p.Arg8Trp).
Fulgent Genetics, Fulgent Genetics RCV005036949 SCV005669062 uncertain significance Diamond-Blackfan anemia 9 2024-01-18 criteria provided, single submitter clinical testing

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