ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1043G>T (p.Cys348Phe) (rs121964927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254994 SCV000321622 pathogenic not provided 2015-04-28 criteria provided, single submitter clinical testing The C370F variant in the F7 gene has been reported previously using alternate nomenclature (C310F) in two unrelated individuals with factor VII deficiency, in homozygosity in one individual and in heterozygosity in the other (Marchetti et al., 1992). The C370F 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 C370F 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 within the catalytic serine protease domain, at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C370F as a pathogenic variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714620 SCV000845332 likely pathogenic Factor VII deficiency 2018-08-07 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000714620 SCV000899297 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research

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