Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000268389 | SCV000341126 | uncertain significance | not provided | 2016-04-20 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV001270131 | SCV001449001 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001270131 | SCV002122404 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-07-14 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 287372). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (rs556002453, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 314 of the CHST14 protein (p.Arg314Gln). |
Ambry Genetics | RCV004021221 | SCV005030418 | uncertain significance | Cardiovascular phenotype | 2022-12-07 | criteria provided, single submitter | clinical testing | The p.R314Q variant (also known as c.941G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 941. The arginine at codon 314 is replaced by glutamine, an amino acid with highly 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV000268389 | SCV001798179 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000268389 | SCV001808699 | likely benign | not provided | no assertion criteria provided | clinical testing |