ClinVar Miner

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

dbSNP: rs1940729491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050752 SCV001214874 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). 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. This variant is not present in population databases (ExAC no frequency). 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.
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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