ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)

dbSNP: rs2124099224
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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 RCV001803593 SCV002049278 pathogenic Hereditary factor VIII deficiency disease 2021-05-25 criteria provided, single submitter clinical testing The F8 c.1485C>G; p.Tyr495Ter variant, also known as c.1594C>G; p.Tyr476Ter, is reported in the literature in multiple individuals affected with moderate to severe hemophilia A (see Factor VIII database in references therein). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and 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. References: Factor VIII variant database: https://f8-db.eahad.org/index.php

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