Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
HUSP Clinical Genetics Laboratory, |
RCV001310275 | SCV001499890 | likely pathogenic | Intellectual disability, X-linked 102 | 2020-10-16 | no assertion criteria provided | clinical testing | The c.544-10_544-8del variant in the DDX3X gene (NM_001193416.3) is a deletion of three nucleotides of intron 6. The in-silico tools predict that it is very likely to affect conventional splicing. This alteration has not been reported previously in the literature, however, in HGMD (ID: CD208594) an equivalent deletion is registered as pathological (c.544-8_544-6delCTT). Pathological variants in the DDX3X gene are associated with the phenotype of "Disorder of intellectual development X-linked Snijders Blok type "(OMIM: 300958). Therefore, the clinical significance of the c.544-10_544-8del variant is likely pathogenic. |