ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.86del (p.Gly29fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050752 SCV001214874 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly29Alafs*4) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hereditary hemorrhagic telangiectasia in a family (PMID: 12700602, 12843319). This variant is also described as delG86 in the literature. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001507801 SCV001713593 pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing PVS1 PM2, PP1_Strong

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