ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.625+1del (rs1555152815)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528230 SCV000639406 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2017-01-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the ACVRL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). A different variant affecting this nucleotide has been reported in a large family affected with hemorrhagic telangiectasia  (PMID: 27291782), indicating that this nucleotide may be crucial for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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