ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)

dbSNP: rs2074020491
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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 RCV001210193 SCV001381667 pathogenic Diamond-Blackfan anemia 2019-10-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). This variant has been observed in an individual affected with Diamond-Blackfan anemia (PMID: 26136524). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val6*) in the RPS19 gene. It is expected to result in an absent or disrupted protein product.

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