Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230171 | SCV001402644 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2019-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln112Hisfs*10) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. 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). |