ClinVar Miner

Submissions for variant NM_000504.4(F10):c.161A>G (p.Glu54Gly)

gnomAD frequency: 0.00001  dbSNP: rs121964944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852044 SCV000899537 likely pathogenic Hereditary factor X deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV001824369 SCV000033084 pathogenic Factor X deficiency 1995-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003983201 SCV004800607 uncertain significance F10-related disorder 2024-02-27 no assertion criteria provided clinical testing The F10 c.161A>G variant is predicted to result in the amino acid substitution p.Glu54Gly. This variant has been reported in the heterozygous state in an individual with a coagulation defect (Supplemental File 3, Downes et al. 2019. PubMed ID: 31064749). However, it has also been identified in controls (Table S2, Paraboschi et al. 2020. PubMed ID: 31699787). It has also been reported in the apparently homozygous state in an individual with mild bleeding tendency and low levels of factor X levels (Kim et al. 1995. PubMed ID: 7860069). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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