ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1017C>A (p.Cys339Ter)

dbSNP: rs745901569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390454 SCV001592194 pathogenic not provided 2020-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys339*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745901569, ExAC 0.02%). This variant has not been reported in the literature in individuals with F11-related conditions. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001390454 SCV005383008 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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