Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004700223 | SCV005205135 | pathogenic | Congenital factor VII deficiency | 2024-06-17 | criteria provided, single submitter | clinical testing | Variant summary: F7 c.1165T>G (p.Cys389Gly) 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-05 in 249480 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in F7 causing Congenital factor VII deficiency, allowing no conclusion about variant significance. c.1165T>G has been reported in the literature in multiple individuals affected with Congenital factor VII deficiency (e.g. Yu_2009, Kwon_2011). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 19601987, 21206266). ClinVar contains an entry for this variant (Variation ID: 12085). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Juno Genomics, |
RCV004700223 | SCV005418323 | likely pathogenic | Congenital factor VII deficiency | criteria provided, single submitter | clinical testing | PM2_Supporting+PP3_Moderate+PM3+PP4 | |
| Fulgent Genetics, |
RCV005007839 | SCV005632528 | likely pathogenic | Myocardial infarction, susceptibility to; Congenital factor VII deficiency | 2024-06-18 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000012866 | SCV000033107 | pathogenic | Factor VII deficiency | 2000-10-01 | no assertion criteria provided | literature only |