ClinVar Miner

Submissions for variant NM_000132.4(F8):c.3964del (p.Gln1322fs)

dbSNP: rs2073183197
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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 RCV001284823 SCV001470862 pathogenic Hereditary factor VIII deficiency disease 2019-10-10 criteria provided, single submitter clinical testing The F8 c.3964delC; p.Gln1322fs 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. Based on available information, this variant is considered to be pathogenic.

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