ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1075del (p.Ile359fs)

dbSNP: rs786204429
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169028 SCV000220177 likely pathogenic Hereditary factor XI deficiency disease 2014-03-18 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001380984 SCV001579227 pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile359Tyrfs*13) in the F11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs756604165, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive factor XI deficiency (PMID: 11127865, 18024374). This variant is also known as 1072delA. ClinVar contains an entry for this variant (Variation ID: 188727). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000169028 SCV002795521 pathogenic Hereditary factor XI deficiency disease 2022-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416050 SCV004116316 pathogenic F11-related disorder 2023-08-12 criteria provided, single submitter clinical testing The F11 c.1075delA variant is predicted to result in a frameshift and premature protein termination (p.Ile359Tyrfs*13). This variant has been reported in the compound heterozygous state in individuals with Factor XI deficiency (reported as 1072delA in Ventura et al. 2000. PubMed ID: 11127865; Zucker et al. 2007. PubMed ID: 18024374). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-187201670-TA-T). Frameshift variants in F11 are expected to be pathogenic. This variant is interpreted as pathogenic.
GeneDx RCV001380984 SCV005371402 likely pathogenic not provided 2024-04-05 criteria provided, single submitter clinical testing Identified during preoperative screening in a family without a history of abnormal bleeding in the published literature and reported as 1072delA (PMID: 11127865); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 11127865)
Natera, Inc. RCV001831986 SCV002082942 pathogenic Plasma factor XI deficiency 2020-10-21 no assertion criteria provided clinical testing

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