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 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). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). 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. 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).

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