ClinVar Miner

Submissions for variant NM_000132.4(F8):c.335C>T (p.Ser112Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466954 SCV002761939 likely pathogenic Hereditary factor VIII deficiency disease 2022-05-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738280 SCV004564329 likely pathogenic not provided 2023-01-27 criteria provided, single submitter clinical testing The F8 c.335C>T; p.Ser112Phe variant (rs2073620915) is reported in the literature in multiple individuals affected with mild hemophilia A (See F8 database and reference therein). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.883). Based on available information, this variant is considered to be likely pathogenic. References: Link to F8 database https://f8-db.eahad.org/index.php
Mayo Clinic Laboratories, Mayo Clinic RCV003738280 SCV005413484 likely pathogenic not provided 2024-09-16 criteria provided, single submitter clinical testing PP3, PM1, PM2, PS4_moderate

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