ClinVar Miner

Submissions for variant NM_001363819.1(DDX3X):c.-304del (rs1131691299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493746 SCV000581817 pathogenic not provided 2017-05-04 criteria provided, single submitter clinical testing The c.255delC variant in the DDX3X gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.255delC variant causes a frameshift starting with codon Phenylalanine 85, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 136 of the new reading frame, denoted p.Phe85LeufsX136. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.255delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.255delC as a pathogenic variant.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678322 SCV000804381 pathogenic Mental retardation, X-linked 102 2017-06-06 criteria provided, single submitter provider interpretation This variant was identified in a 12 year old female with moderate intellectual disability, borderline microcephaly, ADHD, speech disorder, stereotypy, constipation, narrow face, upturned nose, and mildly bowed upper lip. The variant is absent from the gnomAD database, and it was found to be de novo (with maternity and paternity confirmed). It is predicted to result in a frameshift and a premature protein truncation leading to loss of function. Clinical correlation with previously reported females with loss of function DDX3X variants was considered good.

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