ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1325del (p.Leu442fs) (rs757530565)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000387557 SCV000448993 uncertain significance Hereditary factor XI deficiency disease 2017-04-27 criteria provided, single submitter clinical testing The F11 c.1325delT (p.Leu442CysfsTer8) variant results in a frameshift and is predicted to cause a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu442CysfsTer8 variant is reported at a frequency of 0.00093 in the East Asian population of the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor XI deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000387557 SCV000899479 pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Invitae RCV000817992 SCV000958580 pathogenic not provided 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu442Cysfs*8) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757530565, ExAC 0.09%). This variant has been observed in individuals affected with factor XI deficiency (PMID: 27067486). ClinVar contains an entry for this variant (Variation ID: 348378). Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000817992 SCV001500794 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing

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