ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.173-2A>G

dbSNP: rs111833764
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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 RCV000798302 SCV000937909 pathogenic Diamond-Blackfan anemia 2018-12-13 criteria provided, single submitter clinical testing Disruption of this splice site has been observed to be de novo in an individual affected with Diamond-Blackfan anemia (DBA) (PMID: 25703294) and individuals with clinical features of DBA (PMID: 20960466, 29114930, 10590074). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). This sequence change affects an acceptor splice site in intron 3 of the RPS19 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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