ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000352684 SCV000678083 likely pathogenic Hereditary factor XI deficiency disease 2014-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725651 SCV000338374 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV000725651 SCV000946391 likely pathogenic not provided 2018-11-06 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"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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