ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.2413C>T (p.Arg805Cys) (rs760111391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478672 SCV000568498 uncertain significance not provided 2018-06-06 criteria provided, single submitter clinical testing The R805C variant in the SMC3 gene has been reported as one of two different de novo variants identified by whole exome sequencing in an individual with autism (Sanders et al., 2012). The R805C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R805C 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R805C as a variant of uncertain significance.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291379 SCV001479853 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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