Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001992675 | SCV002224721 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 311 of the CHST14 protein (p.Glu311Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly 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 | RCV002370592 | SCV002686774 | uncertain significance | Cardiovascular phenotype | 2022-12-11 | criteria provided, single submitter | clinical testing | The p.E311D variant (also known as c.933G>C), located in coding exon 1 of the CHST14 gene, results from a G to C substitution at nucleotide position 933. The glutamic acid at codon 311 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is 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. |
Revvity Omics, |
RCV003146400 | SCV003830648 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 1 | 2022-03-11 | criteria provided, single submitter | clinical testing |