ClinVar Miner

Submissions for variant NM_000132.4(F8):c.323A>C (p.Lys108Thr)

dbSNP: rs137852384
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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 RCV000508582 SCV000603529 pathogenic not specified 2017-03-06 criteria provided, single submitter clinical testing
Mendelics RCV002247318 SCV002519684 pathogenic Thrombophilia, X-linked, due to factor 8 defect 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508582 SCV005422762 uncertain significance not specified 2024-10-17 criteria provided, single submitter clinical testing Variant summary: F8 c.323A>C (p.Lys108Thr) results in a non-conservative amino acid change located in the Multicopper oxidase-like, N-terminal domain (IPR011707) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183423 control chromosomes. c.323A>C has been reported in the literature in the presumed hemizygous state in at least 1 individuals affected with clinical features of Factor VIII Deficiency (Hemophilia A) (example, Higuchi_1991). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 10%-<30% of FVIII activity (example, Higuchi_1991). The following publication has been ascertained in the context of this evaluation (PMID: 1908096). ClinVar contains an entry for this variant (Variation ID: 10167). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
OMIM RCV000010880 SCV000031107 pathogenic Hereditary factor VIII deficiency disease 1991-08-15 no assertion criteria provided literature only

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