ClinVar Miner

Submissions for variant NM_019616.4(F7):c.533T>G (p.Ile178Ser)

gnomAD frequency: 0.00205  dbSNP: rs141219108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249947 SCV002519646 uncertain significance Congenital factor VII deficiency 2023-08-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261461 SCV002541598 uncertain significance not provided 2022-12-23 criteria provided, single submitter clinical testing PM1_supporting, PS4_moderate
PreventionGenetics, part of Exact Sciences RCV004753546 SCV005341480 uncertain significance F7-related disorder 2024-06-07 no assertion criteria provided clinical testing The F7 c.599T>G variant is predicted to result in the amino acid substitution p.Ile200Ser. This variant has been reported in cohorts of individuals with Factor VII deficiency / blood disorders (Reported as 8926G>T I140S, Rodrigues et al. 2003. PubMed ID: 12695753; Reported as c.347T>G p.Ile116Ser in Table S3, Baz et al. 2021. PubMed ID: 34272389; Pankratz et al. 2022. PubMed ID: 35552711). Also, this variant was shown to be significantly associated with an increased risk of venous thromboembolism (Pankratz et al. 2022. PubMed ID: 35552711). This variant is reported in 0.71% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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