ClinVar Miner

Submissions for variant NM_019616.4(F7):c.443G>A (p.Arg148His)

gnomAD frequency: 0.00001  dbSNP: rs375134790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851809 SCV000899777 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
Genetics and Molecular Pathology, SA Pathology RCV003447562 SCV004175239 uncertain significance Congenital factor VII deficiency 2023-07-18 criteria provided, single submitter clinical testing Note that this variant has been commonly reported with a different transcript in the literature: NM_000131.4:c.509G>A The F7 c.443G>A variant is classified as VUS (PM3, PM2_Supporting, PP4) The F7 c.443G>A variant is a single nucleotide change in exon 5/8 of the F7 gene, which is predicted to change the amino acid arginine at position 148 in the protein to histidine. This variant has been reported in an index case in the homozygous state (PMID: 36760778) for this recessive condition (PM3). The variant is rare in population databases (gnomAD allele frequency = 0.0013%; 2 het and 0 hom in 152238 sequenced alleles; highest frequency = 0.0048%, African/African American population) (PM2_supporting). The patient’s phenotype is highly specific for a disease with a single genetic aetiology (biochemical functional assay shows low FVII activity and prolonged bleeding time) (PP4). The variant has been reported in dbSNP (rs375134790) and in the HGMD database: CM1715892. It has been reported as Likely pathogenic by one other diagnostic laboratory (ClinVar Variation ID: 627084)

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