Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV000761065 | SCV000890980 | likely pathogenic | Malignant fibrous histiocytoma | 2016-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001061144 | SCV001225877 | pathogenic | Baller-Gerold syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620609). This premature translational stop signal has been observed in individual(s) with spindle cell sarcoma (PMID: 31604778). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln573*) 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). |