ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)

dbSNP: rs2074026880
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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 RCV001210127 SCV001381597 pathogenic Diamond-Blackfan anemia 2019-09-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). A different variant (c.98G>A) giving rise to the same protein effect observed here (p.Trp33*) has been determined to be pathogenic (PMID: 18768533). This suggests that this variant is also likely to be causative of disease. This variant has not been reported in the literature in individuals with RPS19-related conditions. This sequence change creates a premature translational stop signal (p.Trp33*) in the RPS19 gene. It is expected to result in an absent or disrupted protein product.

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