Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003040329 | SCV003350399 | pathogenic | Diamond-Blackfan anemia | 2022-04-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val34Glyfs*42) in the RPS19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPS19-related conditions. For these reasons, this variant has been classified as Pathogenic. |