ClinVar Miner

Submissions for variant NM_000504.4(F10):c.1073C>T (p.Thr358Met)

gnomAD frequency: 0.00001  dbSNP: rs768222784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV002236395 SCV002507310 likely pathogenic Hereditary factor X deficiency disease 2021-12-22 criteria provided, single submitter clinical testing
OMIM RCV002267785 SCV000045368 pathogenic Factor X deficiency 2000-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004731246 SCV005335372 likely pathogenic F10-related disorder 2024-04-01 no assertion criteria provided clinical testing The F10 c.1073C>T variant is predicted to result in the amino acid substitution p.Thr358Met. This variant (also known as p.Thr318Met using Legacy nomenclature) has been reported in the homozygous and compound heterozygous state in individuals with Factor X deficiency. Functional studies also indicate this variant impacts Factor X activity (Patient B, Odom et al. 1994. PubMed ID: 8028609; Table 1, Millar et al. 2000. PubMed ID: 10746568). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as likely pathogenic.

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