ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3577A>G (p.Ile1193Val) (rs1555784468)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522169 SCV000621104 likely pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing The I1193V variant in the SMARCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I1193V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I1193V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position within the HELICc domain (Witkowski et al., 2014) that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I1193V as a likely pathogenic variant.

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