Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774263 | SCV000907964 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002061088 | SCV002449094 | likely benign | Ehlers-Danlos syndrome, type 4 | 2022-12-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002222633 | SCV002500732 | uncertain significance | not specified | 2022-03-29 | criteria provided, single submitter | clinical testing | Variant summary: COL3A1 c.1050+7_1050+8delAT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 251366 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1050+7_1050+8delAT in individuals affected with Ehlers-Danlos Syndrome, Vascular Type and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
All of Us Research Program, |
RCV002061088 | SCV004830816 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-13 | criteria provided, single submitter | clinical testing |