Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001925950 | SCV002185551 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2022-09-29 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1413452). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1154Lysfs*15) 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). |
Color Diagnostics, |
RCV003528344 | SCV004363033 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-06 | criteria provided, single submitter | clinical testing | This variant inserts 1 nucleotide in exon 47 of the COL3A1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Loss of COL3A1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
All of Us Research Program, |
RCV001925950 | SCV004828020 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2023-08-28 | criteria provided, single submitter | clinical testing | This variant inserts 1 nucleotide in exon 47 of the COL3A1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Loss of COL3A1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Ambry Genetics | RCV003528344 | SCV005568923 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2024-10-07 | criteria provided, single submitter | clinical testing | The c.3460dupA pathogenic mutation, located in coding exon 47 of the COL3A1 gene, results from a duplication of A at nucleotide position 3460, causing a translational frameshift with a predicted alternate stop codon (p.S1154Kfs*15). 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. |