ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)

dbSNP: rs1060503688
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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 RCV000462953 SCV000553776 likely pathogenic Diamond-Blackfan anemia 2016-08-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the penultimate exon of the RPS19 mRNA at codon 128 (p.Gln128*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated RPS19 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported as de novo in an individual affected with Diamond–Blackfan anemia (PMID: 12750732). For these reasons, and without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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