Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313301 | SCV000738971 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-30 | criteria provided, single submitter | clinical testing | The c.-2C>A variant is located in the 5' untranslated region (5’ UTR) of the FBN2 gene. This variant results from a C to A substitution two nucleotides upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Gene |
RCV003226954 | SCV003923854 | uncertain significance | not provided | 2023-04-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis suggests this variant does not impact splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge |