Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001208047 | SCV001379419 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 229 of the CHST14 protein (p.Glu229Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs370299419, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004033719 | SCV005030363 | uncertain significance | Cardiovascular phenotype | 2023-12-31 | criteria provided, single submitter | clinical testing | The p.E229K variant (also known as c.685G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 685. The glutamic acid at codon 229 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |