ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1378-1G>A (rs1060503237)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471693 SCV000552402 likely pathogenic Hereditary hemorrhagic telangiectasia type 2 2016-06-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9. It is expected to disrupt mRNA splicing and likely results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ACVRL1-related disease. This variant is expected to result in the skipping of the last exon of ACVRL1 mRNA. Exon 10 codes for the last 28 residues of the ACVRL1 kinase domain and missense variants located in this exon have been shown to have a deleterious effect on protein function and stability (PMID: 11484689, 20501893, 23124896). For these reasons, this variant has been classified as Likely Pathogenic.

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