ClinVar Miner

Submissions for variant NM_019616.4(F7):c.656C>A (p.Thr219Asn)

gnomAD frequency: 0.00003  dbSNP: rs1160146175
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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 RCV000851614 SCV000899366 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330942 SCV004039471 likely pathogenic Congenital factor VII deficiency 2023-08-28 criteria provided, single submitter clinical testing Variant summary: F7 c.722C>A (p.Thr241Asn) results in a non-conservative amino acid change located in the Serine proteases, trypsin domain (IPR001254) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251290 control chromosomes (gnomAD). c.722C>A has been reported in the literature in individuals affected with Congenital factor VII deficiency (Millar_2000, Downes_2019, Liang_2021, Wang_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31064749, 33587484, 11129332, 35867939). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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