ClinVar Miner

Submissions for variant NM_000132.4(F8):c.102C>G (p.Asp34Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447795 SCV004175562 uncertain significance Hereditary factor VIII deficiency disease 2022-12-29 criteria provided, single submitter clinical testing The F8 c.102C>G variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3, PS4_Supporting). The F8 c.102C>G variant is a single nucleotide change in exon 1/26 of the F8 gene, which is predicted to change the amino acid aspartic acid at position 34 in the protein to glutamic acid. The variant has been reported in a single individual with a clinical presentation of mild haemophilia A in the literature (PMID: 18217193) (PS4_Supp). This variant is absent from population databases (PM2). Note that this variant is reported in the literature as p.Asp15Glu. Computational predictions support a deleterious effect on the gene or gene product (REVEL=0.725) (PP3). The variant has been reported in the HGMD database: CM080292. It has not been reported in dbSNP or ClinVar.

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