ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1284A>T (p.Arg428Ser)

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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 RCV004785838 SCV005400900 uncertain significance Thrombophilia due to activated protein C resistance 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.1284A>T (p.Arg428Ser) variant in F5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg428Ser variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid of p.Arg428Ser in F5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 428 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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