ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1231G>A (p.Asp411Asn) (rs1324147584)

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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 RCV001000743 SCV001157790 uncertain significance Hereditary factor VIII deficiency disease 2018-08-03 criteria provided, single submitter clinical testing The F8 c.1231G>A; p.Asp411Asn variant, to our knowledge, is not described in the medical literature or in gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 411 is moderately conserved, but computational algorithms (PolyPhen-2: possibly damaging, SIFT: tolerated) are inconclusive on the effect of this variant on protein structure/function. A different variant at this codon (c.1232A>G; p.Asp411Gly) has been described in individuals with mild hemophilia A and is considered pathogenic (see link to FVIII database). However, due to lack of clinical and functional data regarding the p.Asp411Asn variant, its clinical significance cannot be determined with certainty. REFERENCES FVIII database: http://www.factorviii-db.org/

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