Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000199670 | SCV000249875 | uncertain significance | not provided | 2024-09-12 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22696272) |
| Ambry Genetics | RCV002315558 | SCV000738638 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-27 | criteria provided, single submitter | clinical testing | The p.P252S variant (also known as c.754C>T), located in coding exon 5 of the COL5A1 gene, results from a C to T substitution at nucleotide position 754. The proline at codon 252 is replaced by serine, an amino acid with some similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV002228853 | SCV000755969 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2025-01-15 | criteria provided, single submitter | clinical testing | |
| Centre for Mendelian Genomics, |
RCV001199249 | SCV001370299 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2019-07-26 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS2. |