ClinVar Miner

Submissions for variant NM_000128.3(F11):c.809A>T (p.Lys270Ile) (rs121965070)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012677 SCV000678052 uncertain significance Hereditary factor XI deficiency disease 2017-03-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000059034 SCV000700739 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000012677 SCV000448987 likely pathogenic Hereditary factor XI deficiency disease 2017-04-27 criteria provided, single submitter clinical testing The F11 c.809A>T (p.Lys270Ile) missense variant, also known as p.Lys252Ile, has been reported in three studies and is found in a compound heterozygous state in at least four individuals with factor XI deficiency, two of whom were related, and in a heterozygous state in two family members of one of the compound heterozygotes, though phenotype information is not provided (Dai et al. 2004; Mitchell et al. 2006; Castaman et al. 2008). Control data are unavailable for this variant, which is reported at a frequency of 0.00151 in the European (Finnish) population of the Exome Aggregation Consortium. Functional studies in hamster kidney cells demonstrated that while the p.Lys270Ile variant protein was synthesized and expressed intracellularly at levels similar to wild type, secretion of the variant protein was reduced by 73% (Dai et al. 2004). Based on the evidence, the p.Lys270Ile variant is classified as likely pathogenic 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 RCV000012677 SCV000899946 uncertain significance Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
OMIM RCV000012677 SCV000032912 pathogenic Hereditary factor XI deficiency disease 2004-06-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059034 SCV000090555 not provided not provided no assertion provided not provided

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