Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003508847 | SCV004295967 | pathogenic | Baller-Gerold syndrome | 2023-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro448Argfs*19) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Rothmund–Thomson syndrome (PMID: 24635570). |