ClinVar Miner

Submissions for variant NM_000132.3(F8):c.4870G>T (p.Glu1624Ter) (rs1603433733)

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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 RCV001001170 SCV001158321 pathogenic Hereditary factor VIII deficiency disease 2019-03-19 criteria provided, single submitter clinical testing The F8 c.4870G>T; p.Glu1624Ter, to our knowledge, is not reported in the medical literature or gene-specific databases. However, several other variants that introduce a premature termination codon in this region are described as pathogenic in the ClinVar database (see link below). The c.4870G>T; p.Glu1624Ter variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic. References: Link to F8 in ClinVar:

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