ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1350_1351CA[1] (p.Thr451fs)

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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 RCV000756111 SCV000883829 pathogenic not provided 2018-01-05 criteria provided, single submitter clinical testing The F8 c.1352_1353delCA; p.Thr451fs variant is not reported in the literature or gene-specific variant databases. It is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes two nucleotides causing a frameshift and is predicted to result in a truncated protein or mRNA that is subject to nonsense mediated decay. Based on the above information, this variant is considered pathogenic.

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