ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) (rs28937294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756109 SCV000883827 pathogenic not provided 2017-12-06 criteria provided, single submitter clinical testing The F8 c.5879G>A; p.Arg1960Gln variant (rs28937294) has been reported in several individuals with mild hemophilia A (see F8 database link and references therein) and in the ClinVar database (Variation ID: 10110). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The arginine at codon 1960 is well conserved and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be deleterious. Based on the above information, this variant is considered pathogenic. References: Link to p.Arg1960Gln in F8 Variant Database: http://www.factorviii-db.org/newstructure.php?aa_first=Arg&mut_id=1423&aa_last=Gln&variable=1423&hash=a3c7518bdeb6cb1e707ce33f837f89b4
OMIM RCV000010822 SCV000031049 pathogenic Hereditary factor VIII deficiency disease 1990-05-01 no assertion criteria provided literature only

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