Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209666 | SCV001381112 | pathogenic | Baller-Gerold syndrome | 2019-05-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln479*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. |