ClinVar Miner

Submissions for variant NM_000128.4(F11):c.595+3A>G (rs933333847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998331 SCV001154338 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000998331 SCV001382933 likely pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the F11 gene. It does not directly change the encoded amino acid sequence of the F11 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with factor XI deficiency (PMID: 18327400, 18024374, 29178608, 11895778, 22159456, 16835901). This variant is also known as IVS6+3A>G in the literature. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 18327400). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000998331 SCV001715849 likely pathogenic not provided 2021-03-26 criteria provided, single submitter clinical testing PM2, PP5, PS3, PS4_moderate

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