Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001989188 | SCV002282733 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 373 of the CHST14 protein (p.Ala373Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs748434505, ExAC 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV003355746 | SCV004053367 | uncertain significance | Cardiovascular phenotype | 2023-06-29 | criteria provided, single submitter | clinical testing | The p.A373S variant (also known as c.1117G>T), located in coding exon 1 of the CHST14 gene, results from a G to T substitution at nucleotide position 1117. The alanine at codon 373 is replaced by serine, 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. |