Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001027985 | SCV002172088 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-08-22 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 828118). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 146 of the CHST14 protein (p.Arg146Gly). |
Ambry Genetics | RCV002327240 | SCV002632279 | uncertain significance | Cardiovascular phenotype | 2022-03-21 | criteria provided, single submitter | clinical testing | The p.R146G variant (also known as c.436C>G), located in coding exon 1 of the CHST14 gene, results from a C to G substitution at nucleotide position 436. The arginine at codon 146 is replaced by glycine, an amino acid with dissimilar 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. |
Biochemical Molecular Genetic Laboratory, |
RCV001027985 | SCV001190735 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2020-02-05 | no assertion criteria provided | clinical testing |