ClinVar Miner

Submissions for variant NM_000128.4(F11):c.841C>T (p.Gln281Ter)

gnomAD frequency: 0.00001  dbSNP: rs770505620
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521205 SCV000617846 pathogenic not provided 2024-03-19 criteria provided, single submitter clinical testing Partial enzyme deficiency has been reported in at least one heterozygous individual in the published literature and in a heterozygous patient referred for testing at GeneDx, however information about bleeding tendency in these individuals is unknown (PMID: 25681615); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30487145, 26558335, 21668437, 10706758, 25681615, 10730000, 32220196, 32333264, 35314707, 32464451)
Fulgent Genetics, Fulgent Genetics RCV000763124 SCV000893672 pathogenic Hereditary factor XI deficiency disease 2022-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000521205 SCV000956191 pathogenic not provided 2023-12-03 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. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs770505620, gnomAD 0.1%). This premature translational stop signal has been observed in individuals with Factor XI deficiency (PMID: 10706758, 21668437, 25681615). This variant is also known as p.Gln263*. ClinVar contains an entry for this variant (Variation ID: 449563). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000763124 SCV003823988 pathogenic Hereditary factor XI deficiency disease 2021-12-20 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000763124 SCV005416493 pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Strong
Natera, Inc. RCV001273720 SCV001457102 pathogenic Plasma factor XI deficiency 2020-09-16 no assertion criteria provided clinical testing

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