Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001179397 | SCV000738555 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-14 | criteria provided, single submitter | clinical testing | The p.P553S variant (also known as c.1657C>T), located in coding exon 23 of the COL3A1 gene, results from a C to T substitution at nucleotide position 1657. The proline at codon 553 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001179397 | SCV001344052 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-26 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with serine at codon 553 of the COL3A1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/251280 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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, |
RCV004002713 | SCV004824714 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-09-05 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with serine at codon 553 of the COL3A1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/251280 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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. |