ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6020del (p.Met2007fs)

dbSNP: rs2123994155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802716 SCV002049782 pathogenic Hereditary factor VIII deficiency disease 2020-10-16 criteria provided, single submitter clinical testing The F8 c.6020delT; p.Met2007SerfsTer23 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, downstream truncating variants have been described in individuals with hemophilia A and are considered disease-causing (Factor VIII database and references therein). Based on available information, this variant is considered to be pathogenic. References: Factor VIII database: http://f8-db.eahad.org/

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