Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV001262090 | SCV001439482 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2018-01-01 | criteria provided, single submitter | research | PM2+PP3+PP4 |
Gene |
RCV001785803 | SCV002027857 | uncertain significance | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | Observed in an individual with pulmonary arterial hypertension (Song et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate subcellular localization of the endoglin protein similar to wild type (Ali et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22022569, 27613157) |
Genetic Services Laboratory, |
RCV001819966 | SCV002069128 | uncertain significance | not specified | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003405470 | SCV004112060 | uncertain significance | ENG-related condition | 2023-04-27 | criteria provided, single submitter | clinical testing | The ENG c.1268A>G variant is predicted to result in the amino acid substitution p.Asn423Ser. This variant was reported in an individual with pulmonary arterial hypertension (Song et al. 2016. PubMed ID: 27613157) and in an individual with hereditary hemorrhagic telangiectasia (HHT) (Kitayama et al. 2021. PubMed ID: 34872578). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has conflicting interpretations in ClinVar ranging from uncertain to likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/982495/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |