ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.68del (p.Pro23fs)

dbSNP: rs2139064139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801299 SCV002047508 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001801299 SCV002230665 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-12-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 32503579). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro23Leufs*2) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500).

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