ClinVar Miner

Submissions for variant NM_000128.4(F11):c.152C>T (p.Thr51Ile)

dbSNP: rs281875252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447484 SCV004175618 likely pathogenic Hereditary factor XI deficiency disease 2022-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782040 SCV005394187 uncertain significance not specified 2024-09-27 criteria provided, single submitter clinical testing Variant summary: F11 c.152C>T (p.Thr51Ile) results in a non-conservative amino acid change located in the Apple domain (IPR000177) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251466 control chromosomes (gnomAD). c.152C>T has been reported in the literature in individuals affected with Hereditary factor XI deficiency disease (Fard-Esfahani_2008, Bicocchi_2013, Kaya_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 18005151, 33560085, 23305485). ClinVar contains an entry for this variant (Variation ID: 68181). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
UniProtKB/Swiss-Prot RCV000059013 SCV000090534 not provided not provided no assertion provided not provided

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