ClinVar Miner

Submissions for variant NM_001356.4(DDX3X):c.977G>A (p.Arg326His) (rs797045025)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521776 SCV000618041 pathogenic not provided 2018-06-05 criteria provided, single submitter clinical testing The R326H variant in the DDX3X gene has been reported previously as a de novo finding in a female with intellectual disability (Snijders Blok et al., 2015). The R326H variant is not observed in large population cohorts (Lek et al., 2016). The R326H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs within the helicase ATP-binding domain, at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.We interpret R326H as a pathogenic variant.
Ambry Genetics RCV000623237 SCV000741811 pathogenic Inborn genetic diseases 2016-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Institute of Human Genetics,Klinikum rechts der Isar RCV000190552 SCV001149749 pathogenic Mental retardation, X-linked 102 2018-07-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000521776 SCV001250516 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
OMIM RCV000190552 SCV000245433 pathogenic Mental retardation, X-linked 102 2015-08-06 no assertion criteria provided literature only

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