ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.413dup (p.Gly139fs)

dbSNP: rs587779707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955112 SCV002208770 pathogenic Ehlers-Danlos syndrome, type 4 2021-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly139Trpfs*4) in the COL3A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459).
Ambry Genetics RCV004822964 SCV005568932 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2024-11-21 criteria provided, single submitter clinical testing The c.413dupC pathogenic mutation, located in coding exon 4 of the COL3A1 gene, results from a duplication of C at nucleotide position 413, causing a translational frameshift with a predicted alternate stop codon (p.G139Wfs*4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.