Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000197609 | SCV000249811 | uncertain significance | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (HGMD, PMID: 22696272); This variant is associated with the following publications: (PMID: 22696272) |
| Ambry Genetics | RCV002315544 | SCV000738662 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-03 | criteria provided, single submitter | clinical testing | The p.T1037M variant (also known as c.3110C>T), located in coding exon 39 of the COL5A1 gene, results from a C to T substitution at nucleotide position 3110. The threonine at codon 1037 is replaced by methionine, an amino acid with similar properties. This amino acid position is not 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 |
RCV002228844 | SCV000827095 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002492885 | SCV002777401 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal | 2021-09-03 | criteria provided, single submitter | clinical testing |