ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5605G>A (p.Gly1869Ser) (rs1417520379)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757255 SCV000885405 pathogenic not provided 2018-04-22 criteria provided, single submitter clinical testing The F8 c.5605G>A; p.Gly1869Ser, also known as p.Gly1850Ser for legacy nomenclature, has been described in at least one individual with severe hemophilia A (Ravanbod 2012). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 1869 is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Additionally, other variants at this codon (p.Gly1869Asp, p.Gly1869Val) have been reported in individuals with severe hemophilia A and are classified as pathogenic (see link to Factor VIII Database and references therein). Based on available information, this variant is considered pathogenic. References: Link to FVIII Database: Ravanbod S et al. Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. Haemophilia. 2012 May;18(3):e340-6.

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