ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1772G>C (p.Gly591Ala)

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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 RCV003448735 SCV004176398 uncertain significance Congenital factor V deficiency 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.1772G>C(p.Gly591Ala) in F5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly591Ala variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Gly591Ala in F5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 591 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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