ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1489C>T (p.Arg497Ter) (rs375422404)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000349831 SCV000330014 pathogenic not provided 2018-05-08 criteria provided, single submitter clinical testing The R497X variant in the F11 gene has been reported previously, either as a single heterozygous change or in the heterozygous state with a second F11 variant, in individuals with factor XI deficiency (Mitchell et al., 2006; Pike et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R497X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R497X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763125 SCV000893676 pathogenic Hereditary factor XI deficiency disease 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000763125 SCV000899310 likely pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000763125 SCV001251505 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter research The F11 c.1489C>T (p.R497*) nonsense variant is predicted to result in premature protein termination and/or nonsense-mediated decay. This variant has been reported previously as a single heterozygous variant in an individual with Factor XI deficiency (PMID: 16835901) and in the compound heterozygous state in an individual with Factor XI deficiency (PMID: 26558335).
Natera, Inc. RCV001273725 SCV001457107 pathogenic Plasma factor XI deficiency 2020-09-16 no assertion criteria provided clinical testing

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