Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310860 | SCV000319277 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-06-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000807074 | SCV000947106 | benign | Congenital contractural arachnodactyly | 2023-10-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812757 | SCV001472400 | uncertain significance | not provided | 2020-02-07 | criteria provided, single submitter | clinical testing | The FBN2 c.4407G>A; p.Pro1469Pro variant (rs546172367), to our knowledge, is not reported in the medical literature but is reported with conflicting interpretations of pathogenicity in ClinVar (Variation ID: 263838). This variant is found on only three chromosomes (3/251314 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic splice site, although RNA analyses would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.4407G>A variant is uncertain at this time. |