ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.412-2A>G

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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 RCV003616000 SCV004375142 pathogenic Diamond-Blackfan anemia 2024-01-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the RPS19 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 34110484; Invitae). In at least one individual the variant was observed to be de novo. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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