ClinVar Miner

Submissions for variant NM_000128.4(F11):c.485+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447676 SCV004175229 likely pathogenic Hereditary factor XI deficiency disease 2023-06-01 criteria provided, single submitter clinical testing The F11 c.485+1G>T variant is classified as Pathogenic (PVS1, PM2,PP4) The F11 c.485+1G>T variant is located in a splice donor region. Computational predictions support a deleterious effect on splicing and a likely disruption of the protein reading frame and non-sense mediated decay of the resulting protein product (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD. A splice donor variant at the same site, F11 c.485+1G>T has been previously reported in HGMD (CS164338) and ClinVar (Variation ID:1471764). The clinical features of this case are highly specific for the F11 and this patient has a well-defined syndrome with little overlap with other clinical presentations (PP4).

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