Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819548 | SCV000960213 | pathogenic | Diamond-Blackfan anemia | 2018-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp59Tyrfs*53) in the RPL5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Diamond-Blackfan anemia (PMID: 19061985, 23718193, 21659346). This variant is also known as c.173_4delGA in the literature. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006558 | SCV000026741 | pathogenic | Diamond-Blackfan anemia 6 | 2008-12-01 | no assertion criteria provided | literature only |