ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547238 SCV005042627 uncertain significance Thrombophilia due to activated protein C resistance criteria provided, single submitter clinical testing The missense c.1700G>Ap.Cys567Tyr variant in F5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Cys at position 567 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Cys567Tyr in F5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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