ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5483del (p.Pro1828fs)

dbSNP: rs2073030045
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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 RCV001286809 SCV001473428 pathogenic Hereditary factor VIII deficiency disease 2019-09-04 criteria provided, single submitter clinical testing The F8 c.5483delC; p.Pro1828fs 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, several other downstream truncating variants have been reported in individuals with hemophilia A and are considered pathogenic (Green 2008, Rossetti 2007). Based on available information, this variant is considered to be pathogenic. References: Green PM et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol. 2008 Oct;143(1):115-28. Rossetti LC et al. Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects. Haematologica. 2007 Jun;92(6):842-5.

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