ClinVar Miner

Submissions for variant NM_000132.4(F8):c.4936del (p.Ala1646fs)

dbSNP: rs1603433729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991023 SCV001142124 pathogenic Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000991023 SCV002048170 pathogenic Hereditary factor VIII deficiency disease 2021-08-26 criteria provided, single submitter clinical testing The F8 c.4936delG; p.Ala1646GlnfsTer17 variant (rs1603433729) is reported in the literature in an individual affected with severe hemophilia A (Gorziza 3013). This variant is also reported in ClinVar (Variation ID: 804140). This variant is absent from the 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. Based on available information, this variant is considered to be pathogenic. References: Gorziza RP et al. Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease. Blood Coagul Fibrinolysis. 2013 Mar;24(2):164-9. Erratum in: Blood Coagul Fibrinolysis. 2014 Jun;25(4):405. PMID: 23249616.

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