Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000010962 | SCV002049047 | pathogenic | Hereditary factor VIII deficiency disease | 2020-12-10 | criteria provided, single submitter | clinical testing | The F8 c.2945dupA; p.Asn982LysfsTer9 variant (rs387906447), also known as c.2940insA and Asn961fs, has been published in the literature in many individuals and families with hemophilia A (see link to F8 database and references therein). This variant is also reported in ClinVar (Variation ID: 10249) and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by duplicating a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Link to F8 database: https://f8-db.eahad.org/index.php |
| 3billion | RCV000010962 | SCV003841852 | pathogenic | Hereditary factor VIII deficiency disease | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000010249 / PMID: 12204009 / 3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| OMIM | RCV000010962 | SCV000031189 | pathogenic | Hereditary factor VIII deficiency disease | 1993-11-01 | no assertion criteria provided | literature only |