ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.525+1del (rs1060503249)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476471 SCV000552417 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-11-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the ACVRL1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with epistaxis and telangiectasias (PMID: 21158752) and has been observed to segregate with disease in one affected family (Invitae). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ACVRL1 are known to be pathogenic (PMID: 15879500). In addition, this variant has been shown to segregate with disease. Therefore, this variant has been classified as Pathogenic.

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