ClinVar Miner

Submissions for variant NM_000130.5(F5):c.6010T>C (p.Trp2004Arg)

dbSNP: rs2101806568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001420385 SCV001622445 uncertain significance Factor V deficiency 2021-04-28 criteria provided, single submitter research
3billion RCV001420385 SCV002573016 uncertain significance Factor V deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with F5-related disorder (PMID: 31268865). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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