Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | 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. |