ClinVar Miner

Submissions for variant NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) (rs786205483)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171218 SCV000490774 likely pathogenic not provided 2016-02-22 criteria provided, single submitter clinical testing The D119G variant in the RNASEH2B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D119G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D119G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The D119G variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000492016 SCV001438954 likely pathogenic Aicardi Goutieres syndrome 2 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171218 SCV000221415 likely pathogenic not provided no assertion criteria provided research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000492016 SCV000282191 pathogenic Aicardi Goutieres syndrome 2 2016-01-10 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000492016 SCV001133171 likely pathogenic Aicardi Goutieres syndrome 2 2019-09-26 no assertion criteria provided clinical testing

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