Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806868 | SCV000946887 | pathogenic | Baller-Gerold syndrome | 2023-03-26 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 30306255). This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Gln880Serfs*4) 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). ClinVar contains an entry for this variant (Variation ID: 651496). For these reasons, this variant has been classified as Pathogenic. |