ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.288dup (p.Lys97fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437899 SCV002750828 pathogenic Diamond-Blackfan anemia 2017-07-31 criteria provided, single submitter clinical testing The c.288dupC pathogenic mutation, located in coding exon 3 of the RPS19 gene, results from a duplication of C at nucleotide position 288, causing a translational frameshift with a predicted alternate stop codon (p.K97Qfs*57). Frameshifts are typically deleterious in nature; this alteration also impacts the structure of at least one-third of the ribosomal S19e domain. As such, c.288dupC is interpreted as a disease-causing mutation.

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