ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)

dbSNP: rs1555841356
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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 RCV000553313 SCV000637225 pathogenic Diamond-Blackfan anemia 2017-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). This sequence change inserts 2 nucleotides in exon 4 of the RPS19 mRNA (c.296_297dupTG), causing a frameshift at codon 100. This creates a premature translational stop signal (p.Ala100Trpfs*12) and is expected to result in an absent or disrupted protein product.

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