ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6199C>T (p.Arg2067Cys) (rs754160175)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519804 SCV000620410 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing The R2067C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R2067C 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). This 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.

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