ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1136-7_1136-4del (rs1439195599)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671916 SCV000796950 likely pathogenic Hereditary factor XI deficiency disease 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV000796225 SCV000935730 pathogenic not provided 2019-09-06 criteria provided, single submitter clinical testing This sequence change falls in intron 10 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, also known as IVS10-7_-4delGTTG, has been observed to segregate with Factor XI deficiency in a family and has been identified in the homozygous or compound heterozygous state in multiple individuals affected with Factor XI deficiency (PMID: 27067486, 15946525). ClinVar contains an entry for this variant (Variation ID: 555987). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this sequence change disrupts splicing (PMID: 15946525; 27067486). For these reasons, this variant has been classified as Pathogenic.

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