Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037493 | SCV001200909 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2019-08-06 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant has been observed in an individual with clinical features of hereditary hemorrhagic telangiectasia (Invitae). This variant is a deletion of the genomic region encompassing part of exon 7 (c.1030_1048+18del) of the ACVRL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |