ClinVar Miner

Submissions for variant NM_019616.4(F7):c.845C>T (p.Ala282Val)

gnomAD frequency: 0.00006  dbSNP: rs121964931
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852243 SCV000899982 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000995102 SCV001713653 pathogenic not provided 2021-01-18 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM1, PM2, PP5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245661 SCV002515619 likely pathogenic Congenital factor VII deficiency criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487578 SCV002780003 pathogenic Myocardial infarction, susceptibility to; Congenital factor VII deficiency 2022-04-28 criteria provided, single submitter clinical testing
3billion RCV002245661 SCV003842094 pathogenic Congenital factor VII deficiency 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.015%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.78). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000627403). A different missense change at the same codon (p.Ala282Thr) has been reported to be associated with F7 related disorder (PMID: 11129332). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000852243 SCV000033093 pathogenic Factor VII deficiency 1996-09-01 no assertion criteria provided literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV002245661 SCV003927967 pathogenic Congenital factor VII deficiency 2023-04-01 no assertion criteria provided clinical testing

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