ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) (rs61762293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000272977 SCV000329501 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing The R94X variant in the RPS19 gene has been reported previously in association with Diamond-Blackfan anemia (Draptchinskaia et al., 1999; Matsson et al., 1999). Matsson et al. reported this variant using alternate nomenclature R84X. The R94X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In vitro functional studies demonstrated that the presence of the R94X variant resulted in dramatically reduced protein expression (Cretien et al., 2008). We interpret R94X as a pathogenic variant.
OMIM RCV000033182 SCV000057018 pathogenic Diamond-Blackfan anemia 1 1999-02-01 no assertion criteria provided literature only

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