ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.285-12T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263371 SCV001441413 uncertain significance Autistic disorder of childhood onset; Intellectual disability 2020-03-19 criteria provided, single submitter clinical testing The c.285-12T>A variant identified in the DDX3X gene is an intronic variant in a non-canonical positionwithin intron 4/16. The Thymine at this position is very well conserved throughout vertebrate species. This variant is absent from gnomAD suggesting it is not a common benign variant in the populations represented in this database. Human Splicing Finder suggests this variant may lead to the activation of an intronic cryptic acceptor site and potentially alter splicing. The Transcript inferred pathogenicity score (TraP) for this variant is 0.57 (>99th percentile for non-coding variants), suggesting it is possibly damaging to the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. This variant was identified in a male submitted for clinical WGS, and inherited from a presumably unaffected mother. The c.285-12T>A non-coding hemizygous variant is reported here as a Variant of Uncertain Significance.

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