Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001449646 | SCV003500194 | pathogenic | Baller-Gerold syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln415*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1120018). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Medical Genetics Lab, |
RCV001449646 | SCV001652690 | likely pathogenic | Baller-Gerold syndrome | 2021-01-05 | no assertion criteria provided | clinical testing |