ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) (rs1556401714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498530 SCV000589888 pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing The R104Q variant in the ARHGEF9 gene has been reported previously as a de novo variant in a male individual with intellectual disability, seizures, autistic features, and absent speech (Alber et al., 2017). The R104Q variant is not observed in large population cohorts (Lek et al., 2016). The R104Q variant is a semi-conservative amino acidsubstitution, which may impact secondary protein structure as these residues differ in some properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R104Q as a pathogenic variant.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723327 SCV000854721 likely pathogenic Early infantile epileptic encephalopathy 8 2018-07-06 no assertion criteria provided clinical testing

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