ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1229A>T (p.Asp410Val)

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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 RCV001286644 SCV001473252 likely pathogenic none provided 2019-07-24 criteria provided, single submitter clinical testing The F9 c.1229A>T; p.Asp410Val variant, also known as Asp364Val, has been published in at least two individuals with hemophilia B (Chen 1991, Yu 2012). Additionally, other variants in the same codon (c.1228G>A; p.Asp410Asn, c.1228G>C; p.Asp410His, c.1228G>T; p.Asp410Tyr, c.1229A>G; p.Asp410Gly, c.1230T>G; p.Asp410Glu) are described in individuals with hemophilia B (see link to F9 database below). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The amino acid at codon 410 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Considering available information, this variant is classified as likely pathogenic. References: Link to F9 database: http://www.factorix.org Chen SH et al. CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series. Hum Genet. 1991 Jun;87(2):177-82. Yu T et al. Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. Pathology. 2012 Jun;44(4):342-7.

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