ClinVar Miner

Submissions for variant NM_000131.4(F7):c.479A>G (p.Gln160Arg) (rs200016360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779128 SCV000915622 pathogenic Factor VII deficiency 2017-10-20 criteria provided, single submitter clinical testing The F7 c.479A>G (p.Gln160Arg) missense variant, also described in the literature as p.Gln100Arg, has been reported in both symptomatic and asymptomatic individuals for factor VII deficiency. Across a selection of the literature, the p.Gln160Arg variant has been identified in at least six symptomatic individuals with reduced FVII enzyme activity and plasma antigen levels including three homozygotes and at least three compound heterozygotes as well as in a heterozygous state in seven symptomatic and 17 asymptomatic individuals (including five from one family) (Takamiya et al. 1993; Sabater-Lleal et al. 2003; Mathijssen et al. 2004; Marty et al. 2008; Herrmann et al. 2009; Siboni et al. 2015). The p.Gln160Arg variant was absent from 200 control individuals but is reported at a frequency of 0.000622 in the Latino population of the Exome Aggregation Consortium. The variant is noted to be located in a well-conserved residue in the EGF-2 protein domain, which is conserved across the vitamin K-dependent serine protease family.Based on the evidence, the p.Gln160Arg variant is interpreted to be pathogenic for factor VII deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000779128 SCV000899345 pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research

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