ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) (rs905672088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825520 SCV000966834 likely pathogenic Factor V deficiency 2018-08-14 criteria provided, single submitter clinical testing The p.Tyr558X variant in F5 has not been reported in individuals with Factor V d eficiency, but has been identified in 1/8732 African chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs905672088 ). This nonsense variant leads to a premature termination codon at position 558, which is predicted to lead to a truncated or absent protein. Loss of function o f the F5 gene is an established disease mechanism in autosomal recessive Factor V deficiency. In summary, although additional studies are required to fully esta blish its clinical significance, this variant is likely pathogenic. ACMG/AMP Cri teria applied: PVS1; PM2.

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