Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001255169 | SCV001431518 | pathogenic | Diamond-Blackfan anemia 1 | 2020-08-17 | criteria provided, single submitter | clinical testing | This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. RPS19 c.295_296delinsCAGCCGA is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Loss-of-function variants in RPS19 are known to be pathogenic. We consider this variant to be pathogenic. |