ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1085C>T (p.Thr362Met) (rs531225271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482463 SCV000568817 likely pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The T384M variant in the F7 gene has been reported previously, sometimes using alternate nomenclature of T324M, in the homozygous state in multiple individuals with factor VII deficiency, most of whom were clinically asymptomatic and factor VII levels varied with the use of different thromboplastin sources (Mota et al., 2009; Rabelo et al., 2015). Although not present in the homozygous state in any control individuals, the T384M variant is observed in 10/16,366 alleles (0.061%) from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The T384M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A synonymous substitution involving the same residue (T384T aka c.1152 G>A), and missense variants in nearby residues (M387V, M387T, M387I, F388Y, and F388S), have been reported in the Human Gene Mutation Database in association with factor VII deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. The T384M variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095705 SCV001251523 likely pathogenic Factor VII deficiency criteria provided, single submitter research The F7 (p.T384M) (also called p.T324M) variant has previously been reported in factor VII deficiency (PMID: 19751712; 25828579; 18976247).
Mayo Clinic Laboratories, Mayo Clinic RCV000482463 SCV001715056 likely pathogenic not provided 2020-04-06 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP5

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