ClinVar Miner

Submissions for variant NM_000128.4(F11):c.730C>T (p.Gln244Ter)

gnomAD frequency: 0.00001  dbSNP: rs747702749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169501 SCV000220963 likely pathogenic Hereditary factor XI deficiency disease 2014-12-18 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001248521 SCV001422015 pathogenic not provided 2023-04-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs747702749, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Factor XI deficiency (PMID: 16787881, 21668437). This variant is also known as Gln226X. ClinVar contains an entry for this variant (Variation ID: 189094). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln244*) 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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