ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)

dbSNP: rs587779479
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
Ambry Genetics RCV002313842 SCV000738557 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2022-10-14 criteria provided, single submitter clinical testing The p.R1024* pathogenic mutation (also known as c.3070C>T), located in coding exon 42 of the COL3A1 gene, results from a C to T substitution at nucleotide position 3070. This changes the amino acid from an arginine to a stop codon within coding exon 42. This alteration was reported in a family with vascular Ehlers-Danlos syndrome (Leistritz DF et al. Genet. Med., 2011 Aug;13:717-22). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268224 SCV001446996 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000087411 SCV002237245 pathogenic Ehlers-Danlos syndrome, type 4 2024-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1024*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of COL3A1-related conditions (PMID: 21637106). ClinVar contains an entry for this variant (Variation ID: 101174). For these reasons, this variant has been classified as Pathogenic.
Collagen Diagnostic Laboratory, University of Washington RCV000087411 SCV000120295 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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.