ClinVar Miner

Submissions for variant NM_000128.3(F11):c.841C>T (p.Gln281Ter) (rs770505620)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521205 SCV000617846 pathogenic not provided 2017-10-27 criteria provided, single submitter clinical testing The Q281X pathogenic variant in the F11 gene has been reported previously, sometimes with alternate nomenclature (Q263X), in the homozygous state or in combination with another F11 variant in multiple individuals with severe factor XI deficiency, including both individuals with and without reported bleeding symptoms (Kim et al., 2012; Liu et al., 2015; Pike et al., 2016). At least one heterozygous parent was reported with partial factor XI deficiency, but no information was provided was provided about the presence or absence of bleeding symptoms (Liu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q281X variant is observed in 21/18,868 (0.11%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret Q281X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763124 SCV000893672 pathogenic Hereditary factor XI deficiency disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000521205 SCV000956191 pathogenic not provided 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln281*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770505620, ExAC 0.1%). This variant has been observed in several individuals affected with Factor XI deficiency (PMID: 10706758, 21668437, 25681615). This variant is also known as p.Gln263* in the literature. ClinVar contains an entry for this variant (Variation ID: 449563). Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001273720 SCV001457102 pathogenic Plasma factor XI deficiency 2020-09-16 no assertion criteria provided clinical testing

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