Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000824723 | SCV000338982 | uncertain significance | not provided | 2016-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000824723 | SCV000718140 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314016 | SCV000738636 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-01-13 | criteria provided, single submitter | clinical testing | The c.82_84dupCTG variant (also known as p.L28dup), located in coding exon 1 of the COL5A1 gene, results from an in-frame duplication of CTG at nucleotide positions 82 to 84. This results in the duplication of an extra residue between codons 28 and 29. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002229747 | SCV000755946 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | This variant, c.82_84dup, results in the insertion of 1 amino acid(s) of the COL5A1 protein (p.Leu28dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285805). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome Diagnostics Laboratory, |
RCV002278295 | SCV002565791 | uncertain significance | Ehlers-Danlos syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing |