ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2806T>A (p.Cys936Ser) (rs1555778812)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520746 SCV000621292 likely pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The C936S variant in the SMARCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C936S variant is not observed in large population cohorts (Lek et al., 2016). The C936S 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. We interpret C936S as a likely pathogenic variant.

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