Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001061506 | SCV001226251 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 2 | 2020-11-25 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 205 of the ACVRL1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ACVRL1 protein. |
| ARUP Laboratories, |
RCV001061506 | SCV004563482 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 2 | 2023-10-25 | criteria provided, single submitter | clinical testing | The ACVRL1 c.615G>A; p.Val205= variant (rs1940766632), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 856111). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut Visual Plus v.1.5.1, SpliceAI) predict that this variant may impact splicing. Due to limited information, the clinical significance of this variant is uncertain at this time. |