ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2712del (p.Ile905fs)

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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 RCV004764345 SCV005373636 likely pathogenic Hereditary factor VIII deficiency disease 2023-05-20 criteria provided, single submitter clinical testing The frame shift c.2712del(p.Ile905PhefsTer19) variant in F8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Isoleucine 905, changes this amino acid to Phenylalanine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Ile905PhefsTer19. 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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