ClinVar Miner

Submissions for variant NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002281635 SCV002569368 pathogenic Hereditary factor VIII deficiency disease 2021-12-14 criteria provided, single submitter clinical testing A Hemizygous nonsense variation in exon 14 of the F8 gene that results .The observed variant c.4072C>T (p.Gln1358Ter) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species.In summary, the variant meets our criteria to be classified as pathogenic.In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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