ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.693C>G (p.Cys231Trp)

dbSNP: rs1064795155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480973 SCV000570680 likely pathogenic not provided 2016-06-13 criteria provided, single submitter clinical testing The C231W variant in the FN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This 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 C231W 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. The C231W variant is a strong candidate for a pathogenic variant
CHU Sainte-Justine Research Center, University of Montreal RCV000754912 SCV000787522 likely pathogenic Spondylometaphyseal dysplasia 2018-05-09 no assertion criteria provided research 6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia

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