ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2716C>T (p.Arg906Cys) (rs898406635)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484228 SCV000570429 likely pathogenic not provided 2016-05-25 criteria provided, single submitter clinical testing The R906C variant in the SMARCA4 gene has has been previously reported as a somatic variant in a head and neck squamous cell carcinoma, but has not been reported in the germline (Lechner et al., 2013). The R906C 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 R906C 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 R906C variant is within the DEXDc and SNF2_N regions of the ATPase domain, a functionally important region of the protein (Witkowski et al., 2014). The R906C variant is a strong candidate for a pathogenic variant.

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