ClinVar Miner

Submissions for variant NM_000128.3(F11):c.166T>C (p.Cys56Arg) (rs121965069)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012676 SCV000485380 likely pathogenic Hereditary factor XI deficiency disease 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV000802420 SCV000942251 likely pathogenic not provided 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 56 of the F11 protein (p.Cys56Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs121965069, ExAC 0.003%). This variant has been reported both as a single heterozygous variant and as a homozygous or compound heterozygous variant in individuals affected with factor XI deficiency (PMID: 11895778, 16079124, 20398070). It is also known as Cys38Arg in the literature. ClinVar contains an entry for this variant (Variation ID: 11901). Experimental studies have shown that this missense change abolishes F11 protein secretion in vitro, and plasma from individuals homozygous for this variant has almost no detectable F11 activity (PMID: 11895778). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012676 SCV000032911 pathogenic Hereditary factor XI deficiency disease 2002-04-01 no assertion criteria provided literature only

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