Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705120 | SCV000250795 | uncertain significance | not provided | 2021-03-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213800; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23139211, 29543232) |
Invitae | RCV000234145 | SCV000289108 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 93 of the SMAD3 protein (p.Arg93Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with SMAD3-related disease (PMID: 29543232; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 213800). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt SMAD3 function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
CHEO Genetics Diagnostic Laboratory, |
RCV000234145 | SCV000902145 | likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003445690 | SCV004174149 | likely pathogenic | Aneurysm-osteoarthritis syndrome | 2023-11-03 | criteria provided, single submitter | clinical testing |