ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1601T>C (p.Val534Ala)

dbSNP: rs1557281261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507498 SCV000603522 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280879 SCV002569314 uncertain significance Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507498 SCV005039950 uncertain significance not specified 2024-03-08 criteria provided, single submitter clinical testing Variant summary: F8 c.1601T>C (p.Val534Ala) results in a non-conservative amino acid change located in the Multicopper oxidase-like, N-terminal domain (IPR011707) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183421 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1601T>C has been reported in the literature as as a mild variant listed in the PedNet Registry of individuals affected with Factor VIII Deficiency (Hemophilia A) (Andersson_2020). These data do not allow any conclusion about variant significance. To our knowledge, no primary experimental evidence demonstrating an impact on protein function has been reported although the publication cited above lists reports a FVIII activity of 7% and a clinical significance of a mild class 5 category (Pathogenic). The following publication have been ascertained in the context of this evaluation (PMID: 32935414). ClinVar contains an entry for this variant (Variation ID: 439681). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005044761 SCV005682761 likely pathogenic Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 2024-03-09 criteria provided, single submitter clinical testing

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