Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851965 | SCV000899404 | likely pathogenic | Factor VII deficiency | 2019-02-01 | criteria provided, single submitter | research | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323715 | SCV004030020 | likely pathogenic | Congenital factor VII deficiency | 2023-07-24 | criteria provided, single submitter | clinical testing | Variant summary: F7 c.1027G>A (p.Gly343Ser) results in a non-conservative amino acid change located in the Serine proteases, trypsin domain (IPR001254) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249298 control chromosomes (gnomAD). c.1027G>A has been reported in the literature as a biallelic genotype in individuals affected with Congenital factor VII deficiency (e.g. Lee_2008, Kwon_2011, Tang_2019, Cai_2023) and in at least one heterozygous individual with a coagulation disorder (Downes_2019). 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, 21206266, 18180623, 35349734, 36572978). One ClinVar submitter has assessed the variant since 2014, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |