Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587798 | SCV000695375 | uncertain significance | not provided | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180322 | SCV001345221 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-12 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with glutamic acid at codon 1426 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with adolescent idiopathic scoliosis, who had a Ghent systemic score of 3 (PMID:26333736). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
All of Us Research Program, |
RCV004002398 | SCV004828253 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-05-30 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with glutamic acid at codon 1426 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |