ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.237del (p.Arg80fs)

dbSNP: rs1592221830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040491 SCV001204067 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-01-03 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 not been reported in the literature in individuals with ACVRL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg80Alafs*42) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product.

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