ClinVar Miner

Submissions for variant NC_000019.9:g.(?_42373091)_(42375455_?)del

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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 RCV000805921 SCV000945896 pathogenic Diamond-Blackfan anemia 2018-12-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-6 of the RPS19 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with RPS19-related conditions. This variant disrupts the C-terminus of the RPS19 protein. Other variant(s) that disrupt this region (p.Gln128* and p.Asp130Serfs*23) have been determined to be pathogenic (PMID: 12750732, 15075082, 10590074, 11112378, 15059149). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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