ClinVar Miner

Submissions for variant NM_000661.5(RPL9):c.114C>A (p.Phe38Leu)

dbSNP: rs147466054
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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 RCV002581871 SCV003488564 uncertain significance not provided 2023-05-01 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. 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. ClinVar contains an entry for this variant (Variation ID: 2173358). This variant has not been reported in the literature in individuals affected with RPL9-related conditions. This variant is present in population databases (rs147466054, gnomAD 0.004%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 38 of the RPL9 protein (p.Phe38Leu).

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