ClinVar Miner

Submissions for variant NM_000128.3(F11):c.484C>T (p.Arg162Cys) (rs748139184)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494583 SCV000582196 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing The R162C variant in the F11 gene has been reported previously as a pathogenic variant, denoted as R144C due to alternative nomenclature, showing this variant introduces a cysteine which may disrupt disulphide bridge formation (Saunders et al., 2009). The R162C variant is observed in 7/33572 (0.02%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016). The R162C 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-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R162C as a variant of uncertain significance.
Counsyl RCV000668557 SCV000793179 uncertain significance Hereditary factor XI deficiency disease 2017-07-31 criteria provided, single submitter clinical testing

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