ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)

dbSNP: rs2123256254
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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 RCV001384824 SCV001584474 pathogenic Diamond-Blackfan anemia 2020-08-25 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 not been reported in the literature in individuals with RPS19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe21Cysfs*31) in the RPS19 gene. It is expected to result in an absent or disrupted protein product.

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