Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198241 | SCV000249980 | uncertain significance | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with a connective tissue disorder to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28213671) |
Center for Human Genetics, |
RCV000659485 | SCV000781300 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515352 | SCV000816163 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453715 | SCV002616134 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-13 | criteria provided, single submitter | clinical testing | The p.D1129N variant (also known as c.3385G>A), located in coding exon 48 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3385. The aspartic acid at codon 1129 is replaced by asparagine, an amino acid with highly similar properties. This alteration was reported in a cohort of subjects with Smith-Magenis-like syndrome who underwent whole exome sequencing (Berger SI et al. Hum Genet, 2017 04;136:409-420). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |