ClinVar Miner

Submissions for variant NM_000504.4(F10):c.1094G>C (p.Gly365Ala)

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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 RCV004577089 SCV005060898 uncertain significance Hereditary factor X deficiency disease criteria provided, single submitter clinical testing The observed missense variant c.1094G>C(p.Gly365Ala) in F10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1094G>C variant is absent in gnomAD Exomes. The amino acid Glycine at position 365 is changed to a Alanine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Gly365Ala in F10 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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