ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1234C>T (p.Gln412Ter)

dbSNP: rs538083600
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670354 SCV000795196 likely pathogenic Hereditary factor XI deficiency disease 2017-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670354 SCV000893675 pathogenic Hereditary factor XI deficiency disease 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855540 SCV002240932 pathogenic not provided 2021-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln412*) 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 (rs538083600, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive factor XI deficiency (PMID: 27710856). This variant is also known as p.Gln394*. ClinVar contains an entry for this variant (Variation ID: 554679). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000670354 SCV004175862 likely pathogenic Hereditary factor XI deficiency disease 2023-03-01 criteria provided, single submitter clinical testing The stop gained c.1234C>T(p.Gln412Ter) variant in F11 gene has been reported previously in homozygous state in an individual affected with factor XI deficiency (Kawankar N, et. al., 2016). The c.1234C>T variant is novel (not in any individuals) in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic / Pathogenic. The nucleotide change c.1234C>T in F11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This sequence change creates a premature translational stop signal (p.Gln412Ter) in the F11 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in F11 gene have been previously reported to be pathogenic (Duga S & Salomon O., 2013). However, additional functional studies will be required to prove the pathogenicity of this variant.
Revvity Omics, Revvity RCV000670354 SCV004238183 likely pathogenic Hereditary factor XI deficiency disease 2023-05-25 criteria provided, single submitter clinical testing

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