ClinVar Miner

Submissions for variant NM_000128.4(F11):c.961_962del (p.Cys321fs)

dbSNP: rs786204449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169073 SCV000220240 likely pathogenic Hereditary factor XI deficiency disease 2014-04-10 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001850389 SCV002240333 pathogenic not provided 2021-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188757). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive factor XI deficiency (PMID: 16835901, 29178608). This variant is present in population databases (rs753106039, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Cys321Hisfs*37) 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).

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