ClinVar Miner

Submissions for variant NM_000128.4(F11):c.449C>T (p.Thr150Met)

dbSNP: rs1340928778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671578 SCV000796566 uncertain significance Hereditary factor XI deficiency disease 2017-12-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000671578 SCV000899750 likely pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000671578 SCV004809957 likely pathogenic Hereditary factor XI deficiency disease 2024-04-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000671578 SCV004848698 likely pathogenic Hereditary factor XI deficiency disease 2022-06-30 criteria provided, single submitter clinical testing The p.Thr150Met variant in F11 has been reported in one heterozygous individual and one compound heterozygous individual both with Factor XI defieciency (Mitchell 2006 PMID: 16835901, Saunders 2009 PMID: 19652879), and Factor XI assays for both individuals showed dimished activity. The variant has been in 0.02% (1/4828) South Asian chromosomes by gnomAD (https://gnomad.broadinstitute.org/); however this frequency is low enough to be consistent with a carrier frequency for pathogenic F11 variants. Computational prediction tools and conservation analysis suggest that the p.Thr150Met variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Factor XI deficiency. ACMG/AMP Criteria applied: PS3, PM3, PP3, PS4_Supporting.

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