ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1432G>A (p.Gly478Arg) (rs542967227)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725651 SCV000338374 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Counsyl RCV000352684 SCV000678083 likely pathogenic Hereditary factor XI deficiency disease 2014-01-02 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000352684 SCV000899308 pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Invitae RCV000725651 SCV000946391 pathogenic not provided 2020-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 478 of the F11 protein (p.Gly478Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs542967227, ExAC 0.08%). This variant has been observed to segregate with factor XI (FXI) deficiency in a family (PMID: 16079124). This variant has also been observed as homozygous or in combination with another F11 variant in several other individuals affected with FXI deficiency (PMID: 16079124, 15842381,19652879, 16835901, 26558335). It is also known as Gly460Arg in the literature. ClinVar contains an entry for this variant (Variation ID: 285379). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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