rs886039545

Description

The c.1 A>G pathogenic variant in the RPS24 gene has been reported previously in association with Diamond-Blackfan anemia (Badhai et al., 2009; Ghemlas et al., 2015). The c.1 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. We interpret c.1 A>G as a pathogenic variant.