ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1069G>A (p.Gly357Arg)

dbSNP: rs137852257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851648 SCV000899416 likely pathogenic Hereditary factor VIII deficiency disease 2019-02-01 criteria provided, single submitter research
3billion RCV000011357 SCV002573125 pathogenic Hereditary factor IX deficiency disease 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. It is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. The variant has been confirmed to be de novo as shown in the table above In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.99). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with F9-related disorder (ClinVar ID: VCV000010611 / PMID: 7937052). Different missense changes at the same codon (p.Gly357Glu, p.Gly357Val) have been reported to be associated with F9-related disorder (ClinVar ID: VCV000010647 / PMID: 7937052). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000011357 SCV000031589 pathogenic Hereditary factor IX deficiency disease 1989-09-01 no assertion criteria provided literature only

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