ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) (rs779521854)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494230 SCV000581772 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing The R3537C variant in the FRAS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R3537C variant is observed in 1/6,608 (0.015%) alleles from individuals of European (Finnish) background in the ExAC dataset (Lek et al., 2016). The R3537C 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. We interpret R3537C as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000400178 SCV000451315 uncertain significance Cryptophthalmos syndrome 2016-06-14 criteria provided, single submitter clinical testing

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