ClinVar Miner

Submissions for variant NM_000132.3(F8):c.984T>G (p.Phe328Leu) (rs782668199)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825507 SCV000966814 likely pathogenic Hereditary factor VIII deficiency disease 2017-05-04 criteria provided, single submitter clinical testing The p.Phe328Leu (NM_000132.3 c.984T>G) (legacy name p.Phe309Leu) variant in F8 h as been reported in 2 (presumably hemizygous male) individuals and 2 known hemiz ygous males with Hemophilia A and related diseases (prolonged bleed after injury ) (Green 2008, Nair 2010, Pinto 2016), and was absent from large population stud ies. Computational prediction tools and conservation analysis suggest that the p .Phe328Leu variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, the p.Phe328Leu varia nt is likely pathogenic based on its occurrence in multiple affected individuals and absence from controls.

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