ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)

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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 RCV003447776 SCV004175518 uncertain significance Platelet-type bleeding disorder 17 2022-06-29 criteria provided, single submitter clinical testing The GFI1B c.869A>G variant is classified as VUS (PM1, PM2, PP3) The GFI1B c.869A>G variant is a single nucleotide change in exon 11/11 of the GFI1B gene, which is predicted to change the amino acid asparagine at position 290 in the protein to serine. This variant is absent from population databases (PM2). This variant is located in the conserved C2H2 Zinc Finger Domain, which is essential for DNA binding (Van der Meer, et al 2010; PMID: 20861919) (PM1). Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has not been reported in dbSNP, ClinVar or HGMD.

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