Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314281 | SCV000738721 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-08-08 | criteria provided, single submitter | clinical testing | The p.E1216K variant (also known as c.3646G>A), located in coding exon 51 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3646. The glutamic acid at codon 1216 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6500 samples (13000 alleles) with coverage at this position. Based on data from ExAC, the A allele has an overall frequency less than 0.01% (1/99396). This amino acid position is not well 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. |
Invitae | RCV002232769 | SCV000833906 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236823 | SCV003935636 | uncertain significance | not provided | 2023-06-01 | 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 |
Genome |
RCV000704933 | SCV001423377 | not provided | Ehlers-Danlos syndrome, classic type | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 01-20-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |