ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5998+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771785 SCV005382532 likely pathogenic Hereditary factor VIII deficiency disease 2023-05-20 criteria provided, single submitter clinical testing The observed splice donor variant c.5998+1G>T in F8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5998+1G>T variant is absent in gnomAD Exomes. The variant affects the GT donor splice site downstream of exon 18. Computational evidence (Mutation Taster - Disease causing) predicts damaging effect on protein structure and function for this variant. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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