ClinVar Miner

Submissions for variant NM_000128.4(F11):c.219G>A (p.Trp73Ter)

dbSNP: rs762013077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409418 SCV000485474 likely pathogenic Hereditary factor XI deficiency disease 2015-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865257 SCV002232438 pathogenic not provided 2023-05-22 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: 370221). This variant has not been reported in the literature in individuals affected with F11-related conditions. This variant is present in population databases (rs762013077, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp73*) 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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