ClinVar Miner

Submissions for variant NM_000132.3(F8):c.359T>C (p.Val120Ala) (rs1569560006)

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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 RCV000756108 SCV000883826 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing The F8 c.359T>C;p.Val120Ala variant has not been published in an affected individual in the medical literature or the ClinVar database, but is listed in a gene-specific database (see link below). The variant is not listed in the dbSNP variant database or the general population-based databases. The amino acid at this position is moderately conserved across species and computational algorithms (AlignGVGD, SIFT, MutationTaster) predict this variant is deleterious. However, without additional information, it is uncertain if this variant is benign or pathogenic. References: Link to FVIII database: http://www.factorviii-db.org/

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