ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3380A>G (p.Asp1127Gly) (rs1057521113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440122 SCV000521108 likely pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing The D1127G variant in the SMARCA4 gene has been reported previously in a patient with a clinical diagnosis of Coffin-Siris syndrome, however, it was not confirmed as a de novo change due to lack of familial segregation information (Santen et al., 2013). The D1127G variant was not observed in approximately 6500 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 D1127G 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 within the HELICc domain that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The D1127G variant is a strong candidate for a pathogenic variant. However the possibility it may be a rare benign variant cannot be excluded.

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