Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217277 | SCV001389111 | pathogenic | Baller-Gerold syndrome | 2023-05-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 946415). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln377*) 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). |