ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337778 SCV004048051 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing The stop gained c.1335C>G(p.Tyr445Ter) variant in F11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The nucleotide change c.1335C>G in F11 is predicted as conserved by PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of second reportable variant , the molecular diagnosis is not confirmed.

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