Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805999 | SCV000945977 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-08-30 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CHST14-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 183 of the CHST14 protein (p.Asp183Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
Ambry Genetics | RCV002345812 | SCV002651241 | uncertain significance | Cardiovascular phenotype | 2022-10-17 | criteria provided, single submitter | clinical testing | The p.D183G variant (also known as c.548A>G), located in coding exon 1 of the CHST14 gene, results from an A to G substitution at nucleotide position 548. The aspartic acid at codon 183 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |