ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.544-8_544-6del

dbSNP: rs2063875026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 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.

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