ClinVar Miner

Submissions for variant NM_019616.4(F7):c.895C>T (p.Leu299Phe)

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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 RCV004785878 SCV005400982 likely pathogenic Congenital factor VII deficiency 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.895C>T(p.Leu299Phe) in the F7 gene has been reported previously in individuals with Inherited Factor VII (FVII) deficiency (Sharma R, et al., 2023). This variant is reported with the allele frequency 0.0004% in the gnomAD Exomes. The amino acid Leu at position 299 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. Since the Factor VII assay in this patient has been confirmed to be low, this variant has been classified as Likely Pathogenic.

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