Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198879 | SCV000249992 | uncertain significance | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | The R1442Q variant in the COL5A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1442Q variant is observed in 9/276522 (0.003%) alleles in large population cohorts (Lek et al., 2016). The R1442Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret R1442Q as a variant of uncertain significance. |
Invitae | RCV002229473 | SCV000934211 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327034 | SCV002629805 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-02-25 | criteria provided, single submitter | clinical testing | The p.R1442Q variant (also known as c.4325G>A), located in coding exon 53 of the COL5A2 gene, results from a G to A substitution at nucleotide position 4325. The arginine at codon 1442 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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. |