ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3525+5G>A

dbSNP: rs2153503988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524875 SCV001734843 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-21 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +5 position of intron 47 of the COL3A1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related 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.
GeneDx RCV001847295 SCV002104375 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
All of Us Research Program, National Institutes of Health RCV004008802 SCV004824727 uncertain significance Ehlers-Danlos syndrome, type 4 2024-04-16 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +5 position of intron 47 of the COL3A1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related 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.
3billion RCV004728756 SCV005328896 likely benign Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.