Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002401157 | SCV002708075 | uncertain significance | Cardiovascular phenotype | 2021-08-19 | criteria provided, single submitter | clinical testing | The p.G35A variant (also known as c.104G>C), located in coding exon 1 of the CHST14 gene, results from a G to C substitution at nucleotide position 104. The glycine at codon 35 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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 | RCV003097026 | SCV003456215 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-06-24 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (rs562582335, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 35 of the CHST14 protein (p.Gly35Ala). |