ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs)

dbSNP: rs2124105898
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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 RCV001802359 SCV002047791 pathogenic Hereditary factor VIII deficiency disease 2021-04-22 criteria provided, single submitter clinical testing The F8 c.1257_1262delinsG; p.Ala420ArgfsTer2 variant, to our knowledge, is not reported in the medical literature but is reported in the CDC Hemophilia Mutation Project database (see link). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting 6 nucleotides and inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: CDC Hemophilia Mutation Project (CHAMP & CHBMP): https://www.cdc.gov/ncbddd/hemophilia/champs.html

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