Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |