ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2722G>T (p.Glu908Ter)

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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 RCV004818938 SCV005438930 likely pathogenic Congenital factor V deficiency criteria provided, single submitter clinical testing The stop gained variant c.2722G>T p.Glu908Ter in the F5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in the gnomAD Exomes. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease-causing Segers et al., 2012. For these reasons, this variant has been classified as Likely Pathogenic.

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