Submissions for variant NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)

dbSNP: rs1555953527

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000523985	SCV000619871	pathogenic	not provided	2017-08-11	criteria provided, single submitter	clinical testing	The c.962_964delTAG variant in the DDX3X gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame deletion of codon Valine 321, denoted p.Val321del. The c.962_964delTAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The deleted amino acid is a residue that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret c.962_964delTAG as a pathogenic variant.
Ambry Genetics	RCV001267128	SCV001445309	uncertain significance	Inborn genetic diseases	2019-07-24	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001706658	SCV001934275	likely pathogenic	Intellectual disability, X-linked 102	2020-10-27	criteria provided, single submitter	clinical testing	Criteria applied: PS2, PS4_SUP, PM4_SUP, PM2_SUP
Molecular Genetics Lab, CHRU Brest	RCV001706658	SCV004697677	uncertain significance	Intellectual disability, X-linked 102		criteria provided, single submitter	clinical testing