ClinVar Miner

Submissions for variant NM_000132.4(F8):c.83_87del (p.Ala28fs)

dbSNP: rs1603437863
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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 RCV001002612 SCV001160590 likely pathogenic Hereditary factor VIII deficiency disease 2019-05-15 criteria provided, single submitter clinical testing The F8 c.83_87delCAGTG; p.Ala28fs 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 five nucleotides, 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 likely pathogenic.

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