ClinVar Miner

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

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Total submissions: 4
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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 pathogenic not provided 2020-10-13 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, 28960694). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012676 SCV000032911 pathogenic Hereditary factor XI deficiency disease 2002-04-01 no assertion criteria provided literature only
Natera, Inc. RCV001273715 SCV001457097 likely pathogenic Plasma factor XI deficiency 2020-09-16 no assertion criteria provided clinical testing

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