ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1696C>T (p.Leu566Phe)

dbSNP: rs2124094420
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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 RCV002227385 SCV002506304 pathogenic Hereditary factor VIII deficiency disease 2022-02-24 criteria provided, single submitter clinical testing The F8 c.1696C>T; p.Leu566Phe variant is reported in several individuals with moderate to severe hemophilia (See link to F8 database and references therein). Additionally, other amino acid substitutions at this codon (p.Leu566Val, p.Leu566Arg) have been reported in individuals with hemophilia(See link to F8 database). The c.1696C>T; p.Leu566Phe variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 566 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.973). Based on available information, this variant is classified as pathogenic. References: Link to F8 database: https://f8-db.eahad.org/index.php

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